Variant report

Variant	rs1007325
Chromosome Location	chr7:103085801-103085802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:103085498-103087027	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr7:103085407-103087220	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr7:103085515-103086014	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFYB	chr7:103085731-103086051	K562	blood:	n/a	n/a
5	E2F6	chr7:103085573-103087076	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr7:103085653-103085857	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr7:103085784-103086921	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr7:103085750-103086316	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr7:103085632-103087077	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr7:103085629-103086411	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102936543..102939393-chr7:103085608..103089565,4	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMC2-1	chr7:103085654-103086966	ENSG00000234715

No data

Variant related genes	Relation type
SLC26A5	TF binding region
ENSG00000105819	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2079468	0.83[EUR][1000 genomes]
rs6957805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9791490	0.81[EUR][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	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103085200-103086000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:103085400-103086000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr7:103085400-103086200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr7:103085400-103087200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:103085600-103086000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:103085600-103086000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:103085600-103086000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
8	chr7:103085600-103086000	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr7:103085600-103086000	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr7:103085600-103086000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
11	chr7:103085600-103086000	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr7:103085600-103086000	Enhancers	Pancreas	Pancrea
13	chr7:103085600-103086000	Bivalent Enhancer	HUVEC	blood vessel
14	chr7:103085600-103086000	Bivalent Enhancer	NH-A	brain
15	chr7:103085600-103086200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr7:103085600-103086400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr7:103085600-103086400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr7:103085600-103086400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:103085600-103086400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
20	chr7:103085600-103086400	Bivalent Enhancer	Ovary	ovary
21	chr7:103085600-103086400	Bivalent Enhancer	Small Intestine	intestine
22	chr7:103085600-103086600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
23	chr7:103085600-103087000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:103085600-103087000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:103085600-103087000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr7:103085600-103087000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr7:103085600-103087000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr7:103085600-103087000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:103085600-103087000	Active TSS	Aorta	Aorta
30	chr7:103085600-103087000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:103085600-103087000	Bivalent Enhancer	Fetal Brain Male	brain
32	chr7:103085600-103087000	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr7:103085600-103087000	Active TSS	Rectal Smooth Muscle	rectum
34	chr7:103085600-103087200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:103085800-103086000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr7:103085800-103086000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
37	chr7:103085800-103086000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
38	chr7:103085800-103086000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:103085800-103086000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:103085800-103086000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:103085800-103086000	Active TSS	Brain Substantia Nigra	brain
42	chr7:103085800-103086000	Bivalent Enhancer	Colonic Mucosa	Colon
43	chr7:103085800-103086000	Bivalent Enhancer	Colon Smooth Muscle	Colon
44	chr7:103085800-103086000	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr7:103085800-103086000	Enhancers	Lung	lung
46	chr7:103085800-103086000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
47	chr7:103085800-103086000	Bivalent Enhancer	Right Ventricle	heart
48	chr7:103085800-103086000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr7:103085800-103086000	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr7:103085800-103086000	Bivalent Enhancer	Spleen	Spleen

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