Variant report

Variant	rs7804397
Chromosome Location	chr7:116857547-116857548
allele	G/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	TCF12	chr7:116857492-116858427	SK-N-SH	brain:	n/a	n/a
2	TEAD4	chr7:116857545-116858328	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr7:116857490-116858442	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr7:116857479-116858462	SK-N-SH	brain:	n/a	chr7:116857799-116857815 chr7:116858256-116858273

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116843502..116846043-chr7:116854705..116857595,2	K562	blood:
2	7:116610596-116619447..7:116849860-116864942	H1-hESC	embryonic stem cell:	embryo
3	chr7:116843502..116846948-chr7:116854705..116857880,3	K562	blood:
4	chr7:116851355..116854029-chr7:116854766..116858147,3	K562	blood:

Variant related genes	Relation type
ST7	TF binding region
ENSG00000213050	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10265828	1.00[EUR][1000 genomes]
rs11980583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981502	1.00[EUR][1000 genomes]
rs11983151	1.00[EUR][1000 genomes]
rs17139469	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139484	0.88[ASN][1000 genomes]
rs2106627	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4430033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730767	1.00[EUR][1000 genomes]
rs60356864	1.00[EUR][1000 genomes]
rs60412272	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6967851	1.00[EUR][1000 genomes]
rs73470843	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73714631	1.00[EUR][1000 genomes]
rs73714633	1.00[EUR][1000 genomes]
rs73714637	1.00[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	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv5916	chr7:116825221-116870570	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116798200-116866600	Weak transcription	HMEC	breast
2	chr7:116807600-116857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:116824200-116867200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:116825400-116859600	Weak transcription	Brain Anterior Caudate	brain
6	chr7:116827800-116859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:116828800-116865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:116830800-116859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:116830800-116859600	Weak transcription	Gastric	stomach
10	chr7:116831000-116870800	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:116831000-116870800	Weak transcription	Spleen	Spleen
12	chr7:116831200-116865200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:116831400-116858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:116831400-116859000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:116831400-116860400	Weak transcription	HepG2	liver
16	chr7:116831400-116861200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:116834400-116868800	Weak transcription	HSMM	muscle
18	chr7:116835000-116871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:116838800-116859600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:116839000-116868800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:116840000-116859000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:116840000-116871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:116840600-116859600	Weak transcription	Lung	lung
24	chr7:116840800-116860800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:116840800-116861000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:116842800-116865200	Weak transcription	NHEK	skin
27	chr7:116844000-116872600	Weak transcription	Right Ventricle	heart
28	chr7:116847800-116867000	Weak transcription	A549	lung
29	chr7:116849000-116859600	Weak transcription	Brain Angular Gyrus	brain
30	chr7:116849400-116872000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:116850600-116857600	Weak transcription	Fetal Brain Female	brain
32	chr7:116850600-116859400	Weak transcription	Brain Substantia Nigra	brain
33	chr7:116850600-116859600	Weak transcription	Esophagus	oesophagus
34	chr7:116850600-116862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:116850600-116863000	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:116850800-116858800	Weak transcription	Fetal Intestine Small	intestine
37	chr7:116850800-116859200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:116850800-116859400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:116850800-116859400	Weak transcription	Aorta	Aorta
40	chr7:116850800-116859400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:116850800-116860000	Weak transcription	Pancreas	Pancrea
42	chr7:116850800-116869200	Weak transcription	Psoas Muscle	Psoas
43	chr7:116851000-116859400	Weak transcription	Adipose Nuclei	Adipose
44	chr7:116851000-116859600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:116851000-116860800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:116851000-116863200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:116851200-116859200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:116851200-116859200	Weak transcription	Ovary	ovary
49	chr7:116851200-116859400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:116851200-116859400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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