Variant report

Variant	rs11769704
Chromosome Location	chr7:25300223-25300224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:25298613-25300359	SK-N-SH	brain:	n/a	chr7:25300049-25300057 chr7:25299446-25299459 chr7:25298949-25298959
2	RAD21	chr7:25298894-25300248	SK-N-SH	brain:	n/a	chr7:25298948-25298958

No.	Distal block	Cell Line	Cell type
1	chr7:25298959..25300333-chr7:25428102..25430106,21	MCF-7	breast:
2	chr7:25299530..25302516-chr7:25303123..25304940,2	K562	blood:
3	chr7:25299061..25300348-chr7:25608226..25609143,4	K562	blood:
4	chr7:25300000..25302398-chr7:25671728..25673940,2	K562	blood:

Variant related genes	Relation type
ENSG00000202233	TF binding region
ENSG00000202233	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1008929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770932	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11773410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12530684	1.00[ASN][1000 genomes]
rs12538631	1.00[ASN][1000 genomes]
rs13223273	1.00[ASN][1000 genomes]
rs17304305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2391107	1.00[ASN][1000 genomes]
rs34537571	1.00[ASN][1000 genomes]
rs6946398	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6961642	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs73092102	1.00[ASN][1000 genomes]
rs9784962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606424	chr7:24982529-25466521	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv606426	chr7:25254125-25621579	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25295200-25301000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:25295800-25301000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:25296200-25300800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:25296600-25300400	Weak transcription	Fetal Brain Female	brain
5	chr7:25298800-25302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:25299000-25302000	Enhancers	Colon Smooth Muscle	Colon
7	chr7:25299200-25300400	Enhancers	Brain Germinal Matrix	brain
8	chr7:25299200-25300600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:25299200-25300600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr7:25299200-25300600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr7:25299200-25300600	Enhancers	Duodenum Mucosa	Duodenum
12	chr7:25299200-25300600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr7:25299200-25300800	Enhancers	Fetal Muscle Leg	muscle
14	chr7:25299200-25300800	Enhancers	Rectal Smooth Muscle	rectum
15	chr7:25299200-25300800	Enhancers	Thymus	Thymus
16	chr7:25299200-25301000	Enhancers	Brain Hippocampus Middle	brain
17	chr7:25299200-25301400	Enhancers	Fetal Kidney	kidney
18	chr7:25299200-25301600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:25299200-25301600	Enhancers	Fetal Lung	lung
20	chr7:25299200-25302200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:25299200-25303800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr7:25299400-25300400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr7:25299400-25300600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:25299400-25300600	Enhancers	Primary hematopoietic stem cells	blood
25	chr7:25299400-25300600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:25299400-25300800	Enhancers	Fetal Stomach	stomach
27	chr7:25299400-25301400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:25299400-25302000	Enhancers	Fetal Thymus	thymus
29	chr7:25299600-25300600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:25299600-25300600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:25299600-25300600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:25299600-25300800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr7:25299600-25301200	Weak transcription	Fetal Intestine Small	intestine
34	chr7:25299600-25301400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:25299600-25302000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:25299600-25302000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:25299800-25300600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:25299800-25300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:25299800-25300800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:25299800-25301000	Enhancers	Dnd41	blood
41	chr7:25299800-25301000	Weak transcription	NH-A	brain
42	chr7:25299800-25302200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:25300000-25300400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:25300000-25300400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:25300000-25300400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:25300000-25300400	Weak transcription	Brain Substantia Nigra	brain
47	chr7:25300000-25300400	Weak transcription	NHEK	skin
48	chr7:25300000-25300400	Weak transcription	Osteobl	bone
49	chr7:25300000-25300600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:25300000-25300800	Enhancers	HSMM	muscle

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