Variant report

Variant	rs2243934
Chromosome Location	chr2:128405921-128405922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128404401..128407109-chr2:128457505..128460604,3	K562	blood:
2	chr2:128393595..128398988-chr2:128401355..128406842,9	K562	blood:
3	chr2:128398549..128402607-chr2:128405867..128407455,4	MCF-7	breast:
4	chr2:128283338..128286732-chr2:128405209..128408607,3	MCF-7	breast:
5	chr2:128282097..128285637-chr2:128404430..128407235,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173349	Chromatin interaction
ENSG00000072163	Chromatin interaction
ENSG00000163166	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10180750	1.00[MEX][hapmap]
rs13419955	0.81[CHB][hapmap]
rs2244513	0.82[CHD][hapmap]
rs2288657	1.00[MEX][hapmap]
rs7584125	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:29 , 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	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128395000-128407000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:128396400-128406800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:128396600-128406800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:128396800-128408600	Weak transcription	Gastric	stomach
5	chr2:128399800-128407000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:128399800-128419000	Genic enhancers	Left Ventricle	heart
7	chr2:128400400-128406800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:128400600-128406000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:128400600-128406000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:128400600-128406200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:128400600-128406800	Weak transcription	Liver	Liver
12	chr2:128401600-128409200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:128402400-128406600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:128403400-128406200	Enhancers	Placenta	Placenta
15	chr2:128403400-128406800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:128403400-128411400	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:128403600-128406800	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:128403600-128407000	Enhancers	Dnd41	blood
19	chr2:128403600-128408000	Weak transcription	Fetal Brain Female	brain
20	chr2:128403600-128408200	Genic enhancers	Spleen	Spleen
21	chr2:128403600-128408600	Enhancers	Fetal Thymus	thymus
22	chr2:128403600-128419000	Genic enhancers	Right Ventricle	heart
23	chr2:128403800-128406200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:128403800-128406800	Weak transcription	Fetal Lung	lung
25	chr2:128403800-128407400	Enhancers	HUVEC	blood vessel
26	chr2:128403800-128407800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:128403800-128408800	Enhancers	Adipose Nuclei	Adipose
28	chr2:128404000-128406200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:128404000-128406600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:128404000-128406800	Weak transcription	Brain Germinal Matrix	brain
31	chr2:128404000-128407600	Enhancers	Primary T cells from cord blood	blood
32	chr2:128404200-128406200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:128404200-128406400	Enhancers	HSMM	muscle
34	chr2:128404200-128407000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:128404200-128407400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:128404200-128409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:128404200-128411200	Enhancers	Primary B cells from cord blood	blood
38	chr2:128404200-128413600	Genic enhancers	Fetal Stomach	stomach
39	chr2:128404400-128406000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:128404400-128406200	Enhancers	HSMMtube	muscle
41	chr2:128404400-128407800	Enhancers	Esophagus	oesophagus
42	chr2:128404600-128406600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:128404600-128406800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:128404600-128406800	Weak transcription	Brain Angular Gyrus	brain
45	chr2:128404600-128407800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:128404600-128413800	Enhancers	Right Atrium	heart
47	chr2:128404800-128406000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:128404800-128406600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:128404800-128406800	Enhancers	Brain Hippocampus Middle	brain
50	chr2:128404800-128406800	Weak transcription	Colonic Mucosa	Colon

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