Variant report

Variant	rs62441319
Chromosome Location	chr7:6656295-6656296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6652722..6654943-chr7:6655850..6658545,2	K562	blood:
2	chr7:6654514..6658630-chr7:6675114..6678876,5	MCF-7	breast:
3	chr7:6655297..6658106-chr7:6659491..6662615,3	K562	blood:
4	chr7:6628726..6630315-chr7:6654459..6656349,2	MCF-7	breast:
5	chr7:6628238..6630542-chr7:6653702..6656593,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205903	Chromatin interaction
ENSG00000232581	Chromatin interaction
ENSG00000146576	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11763918	0.84[EUR][1000 genomes]
rs58221038	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	nsv887433	chr7:6557135-6668027	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
19	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	esv1797143	chr7:6628177-6705439	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv606003	chr7:6628242-6713985	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv606004	chr7:6643664-6692573	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv887437	chr7:6645281-6704332	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
26	nsv887438	chr7:6652740-6709600	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	esv3444368	chr7:6654052-6656600	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6655000-6656600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:6655400-6656800	Enhancers	Fetal Brain Male	brain
3	chr7:6655600-6656400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:6655800-6656400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:6655800-6656600	Enhancers	Fetal Heart	heart
6	chr7:6655800-6659400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:6655800-6663200	Weak transcription	Liver	Liver
8	chr7:6656000-6656400	Enhancers	Gastric	stomach
9	chr7:6656000-6656600	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:6656000-6656600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:6656000-6656600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr7:6656000-6656800	Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr7:6656000-6656800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr7:6656000-6657200	Enhancers	Lung	lung
15	chr7:6656000-6657200	Enhancers	Spleen	Spleen
16	chr7:6656000-6659000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:6656000-6659200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:6656000-6659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:6656000-6659800	Weak transcription	Primary B cells from cord blood	blood
20	chr7:6656000-6659800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:6656000-6660600	Weak transcription	Aorta	Aorta
22	chr7:6656000-6660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:6656000-6660800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:6656000-6661000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:6656000-6661000	Weak transcription	Esophagus	oesophagus
26	chr7:6656000-6661000	Weak transcription	Left Ventricle	heart
27	chr7:6656000-6663200	Weak transcription	Fetal Kidney	kidney
28	chr7:6656000-6666600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:6656000-6676000	Weak transcription	Psoas Muscle	Psoas
30	chr7:6656200-6656400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr7:6656200-6656400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:6656200-6656400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:6656200-6656400	Enhancers	Fetal Brain Female	brain
34	chr7:6656200-6656400	Enhancers	Fetal Intestine Small	intestine
35	chr7:6656200-6656400	Enhancers	Ovary	ovary
36	chr7:6656200-6656400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr7:6656200-6656400	Enhancers	Stomach Smooth Muscle	stomach
38	chr7:6656200-6656600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:6656200-6656600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:6656200-6656600	Enhancers	Brain Angular Gyrus	brain
41	chr7:6656200-6656600	Enhancers	Colon Smooth Muscle	Colon
42	chr7:6656200-6656600	Enhancers	Fetal Lung	lung
43	chr7:6656200-6656600	Enhancers	Fetal Stomach	stomach
44	chr7:6656200-6656600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
45	chr7:6656200-6656600	Bivalent Enhancer	Rectal Smooth Muscle	rectum
46	chr7:6656200-6656800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:6656200-6656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:6656200-6656800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:6656200-6656800	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr7:6656200-6656800	Enhancers	Pancreas	Pancrea

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