Variant report

Variant	rs7004550
Chromosome Location	chr8:61613051-61613052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61590866..61593326-chr8:61611712..61615687,3	MCF-7	breast:
2	chr8:61610380..61613389-chr8:61616371..61618193,3	MCF-7	breast:
3	chr8:61612592..61618600-chr8:61619190..61622495,7	MCF-7	breast:
4	chr8:61612691..61616083-chr8:61619050..61621954,3	K562	blood:
5	chr8:61590260..61597729-chr8:61611560..61624694,18	MCF-7	breast:
6	chr8:61599554..61605342-chr8:61607995..61613853,8	K562	blood:
7	chr8:61612804..61613328-chr8:61936184..61936687,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6986750	0.89[YRI][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1019809	chr8:61597918-61624034	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv539631	chr8:61597918-61624034	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
2	chr8:61597000-61619800	Weak transcription	HMEC	breast
3	chr8:61598200-61619800	Weak transcription	HepG2	liver
4	chr8:61599200-61613200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:61603400-61613400	Weak transcription	K562	blood
6	chr8:61603400-61616200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr8:61603400-61620600	Weak transcription	Fetal Intestine Large	intestine
8	chr8:61603400-61626200	Weak transcription	Fetal Thymus	thymus
9	chr8:61604400-61614200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:61605800-61615400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:61606400-61620400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:61607200-61613400	Weak transcription	Brain Angular Gyrus	brain
13	chr8:61607200-61619800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:61607400-61615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:61607400-61619800	Weak transcription	Fetal Lung	lung
16	chr8:61607400-61627000	Weak transcription	Spleen	Spleen
17	chr8:61607600-61613200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:61607600-61613200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr8:61607600-61614000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:61607600-61614200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:61607600-61615000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:61607600-61615800	Weak transcription	Small Intestine	intestine
23	chr8:61607600-61616200	Weak transcription	Right Atrium	heart
24	chr8:61607600-61620400	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:61607800-61613200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:61607800-61613200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:61607800-61615000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:61608200-61615000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:61608600-61615800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:61609200-61614600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:61609200-61619800	Weak transcription	HSMM	muscle
32	chr8:61609200-61620400	Weak transcription	NH-A	brain
33	chr8:61610200-61613400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:61610400-61615400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:61610600-61614600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:61610600-61620000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:61610800-61615600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:61611200-61613600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:61611400-61613600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:61611600-61613600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:61611800-61613200	Weak transcription	Lung	lung
42	chr8:61612000-61613200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:61612000-61614200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:61612200-61613200	Weak transcription	Primary T cells from cord blood	blood
45	chr8:61612400-61617400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:61612600-61614800	Enhancers	Brain Germinal Matrix	brain
47	chr8:61612600-61616200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:61612600-61616400	Enhancers	Fetal Heart	heart
49	chr8:61612600-61622000	Enhancers	Primary B cells from peripheral blood	blood
50	chr8:61612800-61613200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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