Variant report

Variant	rs6968492
Chromosome Location	chr7:66216172-66216173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66204928..66209821-chr7:66213597..66216412,7	MCF-7	breast:
2	chr7:66204246..66207012-chr7:66215516..66218259,3	MCF-7	breast:
3	chr7:66209147..66212594-chr7:66215527..66217393,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000154710	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17138012	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17138015	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1882654	0.87[AMR][1000 genomes]
rs58642961	0.87[AMR][1000 genomes]
rs60019603	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60319566	0.87[AMR][1000 genomes]
rs60330379	1.00[EUR][1000 genomes]
rs61225743	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised 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	116 gene(s)	inside rSNPs	diseases
3	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66206400-66216600	Weak transcription	Spleen	Spleen
2	chr7:66206800-66216400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:66206800-66223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:66206800-66232600	Weak transcription	Primary T cells from cord blood	blood
5	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
6	chr7:66207000-66216200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:66207000-66216400	Weak transcription	Right Atrium	heart
8	chr7:66207000-66216600	Weak transcription	Esophagus	oesophagus
9	chr7:66207000-66222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:66207000-66227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:66207000-66227400	Weak transcription	Fetal Stomach	stomach
12	chr7:66207000-66230600	Weak transcription	Fetal Intestine Large	intestine
13	chr7:66207000-66230600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:66207000-66234000	Weak transcription	Fetal Thymus	thymus
15	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:66207200-66223400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:66207600-66220400	Weak transcription	Brain Angular Gyrus	brain
20	chr7:66207600-66220400	Weak transcription	Brain Substantia Nigra	brain
21	chr7:66207600-66223200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:66207600-66223400	Weak transcription	K562	blood
23	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:66207800-66219800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:66207800-66220600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:66207800-66225800	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:66208000-66216400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:66208000-66217800	Weak transcription	Right Ventricle	heart
29	chr7:66208000-66219400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:66208000-66230600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:66208000-66232400	Weak transcription	Thymus	Thymus
32	chr7:66208000-66236800	Weak transcription	Dnd41	blood
33	chr7:66208000-66238000	Weak transcription	A549	lung
34	chr7:66208000-66238600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:66208000-66238600	Weak transcription	Brain Germinal Matrix	brain
36	chr7:66208000-66240800	Weak transcription	HSMMtube	muscle
37	chr7:66208000-66241800	Weak transcription	Hela-S3	cervix
38	chr7:66208400-66219400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:66208800-66216400	Weak transcription	Pancreas	Pancrea
40	chr7:66209400-66239000	Weak transcription	HMEC	breast
41	chr7:66210400-66217200	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:66210800-66217400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr7:66211000-66223400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:66211000-66228600	Weak transcription	Fetal Lung	lung
45	chr7:66212000-66236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:66213200-66234400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:66213400-66220000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:66213400-66220000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:66213400-66230600	Weak transcription	NH-A	brain
50	chr7:66213600-66217800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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