Variant report

Variant	rs34533005
Chromosome Location	chr2:128402330-128402331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128402294-128402344	RPTEC	kidney:	n/a
2	chr2:128402294-128402344	ProgFib	skin:	n/a
3	chr2:128402294-128402344	AG09309	skin:	n/a
4	chr2:128402294-128402344	HCPEpiC	choroid plexus:	n/a
5	chr2:128402294-128402344	NHDF-neo	bronchial:	n/a
6	chr2:128402294-128402344	PrEC	prostate:	n/a
7	chr2:128402294-128402344	HepG2	liver:	n/a
8	chr2:128402294-128402344	HCF	heart:	n/a
9	chr2:128402294-128402344	Caco-2	colon:	n/a
10	chr2:128402294-128402344	A549	lung:	n/a
11	chr2:128402294-128402344	HRCEpiC	kidney:	n/a
12	chr2:128402294-128402344	HIPEpiC	eye:	n/a
13	chr2:128402294-128402344	MCF10A-Er-Src	breast:	n/a
14	chr2:128402294-128402344	Jurkat	blood:	n/a
15	chr2:128402294-128402344	K562	blood:	n/a
16	chr2:128402294-128402344	AG10803	skin:	n/a
17	chr2:128402294-128402344	Hela-S3	cervix:	n/a
18	chr2:128402294-128402344	GM12891	blood:	n/a
19	chr2:128402294-128402344	ovcar-3	ovarian:	n/a
20	chr2:128402294-128402344	AG09319	gingival:	n/a
21	chr2:128402294-128402344	NH-A	brain:	n/a
22	chr2:128402294-128402344	SKMC	muscle:	n/a
23	chr2:128402294-128402344	PFSK-1	brain:	n/a
24	chr2:128402294-128402344	HUVEC	blood vessel:	n/a
25	chr2:128402294-128402344	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:128402294-128402344	HMEC	breast:	n/a
27	chr2:128402294-128402344	LNCaP	prostate:	n/a
28	chr2:128402294-128402344	SAEC	small airway:	n/a
29	chr2:128402294-128402344	MCF-7	breast:	n/a
30	chr2:128402294-128402344	IMR90	lung:	fetal
31	chr2:128402294-128402344	AG04450	lung:	fetal
32	chr2:128402294-128402344	H1-hESC	embryonic stem cell:	embryo
33	chr2:128402294-128402344	U87	brain:	n/a
34	chr2:128402294-128402344	HCM	heart:	n/a
35	chr2:128402294-128402344	Hepatocyte	liver:	n/a
36	chr2:128402294-128402344	HAEpiC	amniotic membrane:	n/a
37	chr2:128402294-128402344	PANC-1	pancreas:	n/a
38	chr2:128402294-128402344	BE2_C	brain:	n/a
39	chr2:128402294-128402344	HEK293	kidney:	embryo
40	chr2:128402294-128402344	HRPEpiC	eye:	n/a
41	chr2:128402294-128402344	HCT-116	colon:	n/a
42	chr2:128402294-128402344	HEEpiC	esophagus:	n/a
43	chr2:128402294-128402344	AG04449	skin:	fetal
44	chr2:128402294-128402344	NB4	blood:	n/a
45	chr2:128402294-128402344	BJ	skin:	n/a
46	chr2:128402294-128402344	NT2-D1	testis:	n/a
47	chr2:128402294-128402344	HNPCEpiC	eye:	n/a
48	chr2:128402294-128402344	HRE	kidney:	n/a
49	chr2:128402294-128402344	ECC-1	luminal epithelium:	n/a
50	chr2:128402294-128402344	GM12892	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41464681..41467245-chr2:128400919..128402419,3	K562	blood:
2	chr2:128282521..128284586-chr2:128401987..128404000,3	MCF-7	breast:
3	chr2:128393595..128398988-chr2:128401355..128406842,9	K562	blood:

No data

Variant related genes	Relation type
LIMS2	CpG island
GPR17	CpG island
ENSG00000163166	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000072163	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3771291	1.00[LWK][hapmap]
rs4662738	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011937	chr2:128295320-128405921	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1008294	chr2:128295320-128420654	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1007207	chr2:128295320-128429775	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1003004	chr2:128295320-128474326	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1008457	chr2:128299079-128405921	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1009514	chr2:128299079-128420654	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1006421	chr2:128299079-128473079	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1004877	chr2:128299079-128479640	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv875015	chr2:128305196-128495645	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1001624	chr2:128306660-128420654	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv875017	chr2:128330458-128445585	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv875018	chr2:128330458-128465547	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv518085	chr2:128334413-128404860	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv875019	chr2:128340855-128408170	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv875020	chr2:128340855-128445585	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv875021	chr2:128340855-128465547	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv470482	chr2:128350808-128465547	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
18	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
19	nsv875022	chr2:128378563-128405721	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv875023	chr2:128378563-128407499	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv875024	chr2:128378563-128408170	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv875025	chr2:128378563-128409419	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv875026	chr2:128378563-128445585	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv428726	chr2:128387756-128539894	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
25	nsv517532	chr2:128387937-128404860	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
26	nsv875027	chr2:128387937-128408170	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv875028	chr2:128387937-128445585	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv875029	chr2:128395498-128465547	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
29	nsv459252	chr2:128398840-128476484	Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
30	nsv583038	chr2:128398840-128476484	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
31	nsv875030	chr2:128399414-128495645	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	36 gene(s)	inside rSNPs	diseases
32	nsv875031	chr2:128401091-128445585	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128392000-128403000	Weak transcription	Brain Germinal Matrix	brain
2	chr2:128394800-128403000	Enhancers	Fetal Heart	heart
3	chr2:128395000-128407000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:128395600-128403800	Genic enhancers	Stomach Smooth Muscle	stomach
5	chr2:128395800-128404000	Weak transcription	Pancreas	Pancrea
6	chr2:128395800-128404600	Weak transcription	NHLF	lung
7	chr2:128396000-128404600	Weak transcription	Right Atrium	heart
8	chr2:128396200-128404200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:128396400-128406800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:128396600-128406800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:128396800-128402400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:128396800-128403000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:128396800-128404200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:128396800-128408600	Weak transcription	Gastric	stomach
15	chr2:128397400-128403200	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:128398200-128404000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:128398200-128404200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:128398200-128405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:128398800-128404400	Weak transcription	HSMMtube	muscle
20	chr2:128399400-128403000	Enhancers	Brain Hippocampus Middle	brain
21	chr2:128399800-128403000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:128399800-128404200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:128399800-128404200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:128399800-128404400	Weak transcription	Esophagus	oesophagus
25	chr2:128399800-128407000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:128399800-128419000	Genic enhancers	Left Ventricle	heart
27	chr2:128400000-128402600	Enhancers	Fetal Thymus	thymus
28	chr2:128400000-128402800	Enhancers	Primary T cells from cord blood	blood
29	chr2:128400000-128403800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:128400000-128403800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:128400000-128404000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr2:128400000-128404000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:128400000-128404200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:128400000-128405400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:128400400-128402400	Enhancers	Dnd41	blood
36	chr2:128400400-128403400	Weak transcription	Placenta	Placenta
37	chr2:128400400-128403600	Enhancers	Brain Substantia Nigra	brain
38	chr2:128400400-128403800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:128400400-128406800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:128400600-128402800	Genic enhancers	Colon Smooth Muscle	Colon
41	chr2:128400600-128403000	Enhancers	Brain Angular Gyrus	brain
42	chr2:128400600-128403000	Enhancers	Brain Anterior Caudate	brain
43	chr2:128400600-128404000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:128400600-128406000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:128400600-128406000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:128400600-128406200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:128400600-128406800	Weak transcription	Liver	Liver
48	chr2:128400800-128403000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:128400800-128403400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:128400800-128403800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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