Variant report

Variant	rs34795680
Chromosome Location	chr3:178969741-178969742
allele	C/G
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:2)
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	chr3:178969733-178969783	NHDF-neo	bronchial:	n/a
2	chr3:178969733-178969783	HCM	heart:	n/a
3	chr3:178969733-178969783	AG09319	gingival:	n/a
4	chr3:178969733-178969783	K562	blood:	n/a
5	chr3:178969733-178969783	HUVEC	blood vessel:	n/a
6	chr3:178969733-178969783	HEEpiC	esophagus:	n/a
7	chr3:178969733-178969783	ovcar-3	ovarian:	n/a
8	chr3:178969733-178969783	HRE	kidney:	n/a
9	chr3:178969733-178969783	IMR90	lung:	fetal
10	chr3:178969733-178969783	Hela-S3	cervix:	n/a
11	chr3:178969733-178969783	HL-60	blood:	n/a
12	chr3:178969733-178969783	HRCEpiC	kidney:	n/a
13	chr3:178969733-178969783	SKMC	muscle:	n/a
14	chr3:178969733-178969783	GM12891	blood:	n/a
15	chr3:178969733-178969783	HCT-116	colon:	n/a
16	chr3:178969733-178969783	SK-N-SH_RA	brain:	n/a
17	chr3:178969733-178969783	LNCaP	prostate:	n/a
18	chr3:178969733-178969783	HRPEpiC	eye:	n/a
19	chr3:178969733-178969783	HepG2	liver:	n/a
20	chr3:178969733-178969783	Caco-2	colon:	n/a
21	chr3:178969733-178969783	SK-N-MC	brain:	n/a
22	chr3:178969733-178969783	PrEC	prostate:	n/a
23	chr3:178969733-178969783	AG04450	lung:	fetal
24	chr3:178969733-178969783	NT2-D1	testis:	n/a
25	chr3:178969733-178969783	NH-A	brain:	n/a
26	chr3:178969733-178969783	AG10803	skin:	n/a
27	chr3:178969733-178969783	MCF-7	breast:	n/a
28	chr3:178969733-178969783	MCF10A-Er-Src	breast:	n/a
29	chr3:178969733-178969783	Jurkat	blood:	n/a
30	chr3:178969733-178969783	ECC-1	luminal epithelium:	n/a
31	chr3:178969733-178969783	HPAEpiC	pulmonary alveolar:	n/a
32	chr3:178969733-178969783	CMK	blood:	n/a
33	chr3:178969733-178969783	GM12878	blood:	n/a
34	chr3:178969733-178969783	NB4	blood:	n/a
35	chr3:178969733-178969783	SAEC	small airway:	n/a
36	chr3:178969733-178969783	PFSK-1	brain:	n/a
37	chr3:178969733-178969783	U87	brain:	n/a
38	chr3:178969733-178969783	PANC-1	pancreas:	n/a
39	chr3:178969733-178969783	Hepatocyte	liver:	n/a
40	chr3:178969733-178969783	HEK293	kidney:	embryo
41	chr3:178969733-178969783	HCF	heart:	n/a
42	chr3:178969733-178969783	A549	lung:	n/a
43	chr3:178969733-178969783	BJ	skin:	n/a
44	chr3:178969733-178969783	HMEC	breast:	n/a
45	chr3:178969733-178969783	H1-hESC	embryonic stem cell:	embryo
46	chr3:178969733-178969783	T-47D	breast:	n/a
47	chr3:178969733-178969783	HIPEpiC	eye:	n/a
48	chr3:178969733-178969783	SK-N-SH	brain:	n/a
49	chr3:178969733-178969783	BE2_C	brain:	n/a
50	chr3:178969733-178969783	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:178961023..178967533-chr3:178968774..178973213,9	K562	blood:
2	chr3:178969453..178970968-chr3:178972956..178974684,2	K562	blood:

No data

Variant related genes	Relation type
KCNMB3	CpG island
ENSG00000171121	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7645550	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1002962	chr3:178943753-179224548	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv536815	chr3:178943753-179224548	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1003021	chr3:178944806-179246179	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1006584	chr3:178944822-179241429	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv829806	chr3:178952363-179154373	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800747	chr3:178962897-178977074	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1010137	chr3:178962897-179050787	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
11	nsv471116	chr3:178968634-179252263	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv592650	chr3:178968634-179252263	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178912400-178978600	Weak transcription	Right Ventricle	heart
2	chr3:178914800-178972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:178932200-178974000	Weak transcription	Lung	lung
4	chr3:178941800-178972600	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:178945800-178978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:178948800-178978600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:178949000-178970800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:178949000-178978200	Weak transcription	NHLF	lung
9	chr3:178949000-178978600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:178949000-178978600	Weak transcription	Ovary	ovary
11	chr3:178949000-178978800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:178949200-178978400	Weak transcription	Brain Anterior Caudate	brain
13	chr3:178949200-178978600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:178949200-178978600	Weak transcription	Osteobl	bone
15	chr3:178952000-178978400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr3:178952200-178970400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:178952200-178973000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:178952400-178971200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:178952400-178971400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:178952400-178978600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:178952600-178976600	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:178954600-178970800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:178954600-178972400	Weak transcription	Fetal Intestine Small	intestine
24	chr3:178955000-178973800	Weak transcription	HSMMtube	muscle
25	chr3:178955200-178974400	Weak transcription	GM12878-XiMat	blood
26	chr3:178955400-178970600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:178956200-178977000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:178959800-178978800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:178963200-178970000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:178963200-178970600	Weak transcription	Placenta	Placenta
31	chr3:178963200-178971000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:178963200-178978200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:178963200-178978600	Weak transcription	Left Ventricle	heart
34	chr3:178963200-178978800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:178963800-178978800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:178965400-178970000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:178966000-178971400	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:178966200-178978600	Weak transcription	HUVEC	blood vessel
39	chr3:178968000-178970400	Strong transcription	K562	blood
40	chr3:178968600-178973000	Weak transcription	Fetal Brain Female	brain
41	chr3:178968800-178974200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:178968800-178974800	Weak transcription	Adipose Nuclei	Adipose
43	chr3:178968800-178974800	Weak transcription	Spleen	Spleen
44	chr3:178968800-178978400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:178968800-178978600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:178969000-178975200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:178969200-178969800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:178969200-178971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:178969200-178974800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:178969200-178978400	Weak transcription	Primary B cells from cord blood	blood

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