Variant report

Variant	rs3815980
Chromosome Location	chr7:150815882-150815883
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:8094111..8096395-chr7:150814186..150816873,2	MCF-7	breast:
2	chr7:150813337..150816221-chr7:150868567..150872033,3	K562	blood:

Variant related genes	Relation type
ENSG00000243350	Chromatin interaction
ENSG00000164900	Chromatin interaction
ENSG00000197308	Chromatin interaction
ENSG00000107485	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10267625	1.00[GIH][hapmap]
rs11542749	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs2229553	0.84[EUR][1000 genomes]
rs2303943	1.00[CHB][hapmap]
rs34762230	0.87[EUR][1000 genomes]
rs35170576	0.82[EUR][1000 genomes]
rs35662595	0.87[EUR][1000 genomes]
rs4725991	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs56353209	0.84[EUR][1000 genomes]
rs7808684	1.00[JPT][hapmap]
rs919533	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers 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	64 gene(s)	inside rSNPs	diseases
7	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription 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	45 gene(s)	inside rSNPs	diseases
14	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS 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	48 gene(s)	inside rSNPs	diseases
15	nsv609025	chr7:150811765-150825087	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv3438638	chr7:150814869-150817367	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
2	chr7:150811200-150816200	Weak transcription	NHDF-Ad	bronchial
3	chr7:150811600-150821200	Weak transcription	Fetal Kidney	kidney
4	chr7:150812400-150829600	Weak transcription	Small Intestine	intestine
5	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:150812800-150816200	Flanking Active TSS	Dnd41	blood
7	chr7:150812800-150822400	Weak transcription	Psoas Muscle	Psoas
8	chr7:150813000-150818800	Strong transcription	HepG2	liver
9	chr7:150813000-150821400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:150813000-150822400	Strong transcription	NHLF	lung
11	chr7:150813000-150840400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:150813200-150816200	Weak transcription	HUVEC	blood vessel
14	chr7:150813200-150821000	Weak transcription	Fetal Brain Male	brain
15	chr7:150813200-150822200	Weak transcription	Right Atrium	heart
16	chr7:150813400-150816000	Genic enhancers	Spleen	Spleen
17	chr7:150813400-150822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:150813600-150816000	Weak transcription	HSMM	muscle
19	chr7:150813600-150819200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:150813600-150821200	Strong transcription	Fetal Stomach	stomach
21	chr7:150813600-150821400	Strong transcription	Right Ventricle	heart
22	chr7:150813600-150822200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:150813600-150822400	Strong transcription	Fetal Brain Female	brain
24	chr7:150813600-150822400	Strong transcription	Fetal Intestine Small	intestine
25	chr7:150813600-150822600	Strong transcription	Liver	Liver
26	chr7:150813800-150819000	Weak transcription	Fetal Heart	heart
27	chr7:150813800-150819400	Strong transcription	Fetal Intestine Large	intestine
28	chr7:150813800-150820800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:150813800-150821000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:150813800-150821200	Strong transcription	Brain Anterior Caudate	brain
31	chr7:150813800-150821200	Strong transcription	Fetal Muscle Leg	muscle
32	chr7:150814000-150817200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:150814000-150819000	Weak transcription	A549	lung
34	chr7:150814000-150821000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:150814000-150821200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr7:150814000-150821200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:150814000-150822200	Strong transcription	Lung	lung
38	chr7:150814000-150828600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:150814000-150842600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:150814200-150817000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:150814200-150818600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:150814200-150819000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr7:150814200-150820800	Strong transcription	Colonic Mucosa	Colon
44	chr7:150814200-150822200	Strong transcription	Brain Germinal Matrix	brain
45	chr7:150814200-150822600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr7:150814200-150839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:150814400-150816200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:150814400-150818000	Strong transcription	K562	blood
49	chr7:150814400-150819200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:150814400-150819400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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