Variant report

Variant	rs57764941
Chromosome Location	chr7:140591287-140591288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140589437..140591945-chr7:140623059..140625802,2	K562	blood:
2	chr7:140581979..140583708-chr7:140590896..140592469,2	K562	blood:
3	chr7:140585371..140588493-chr7:140589347..140593837,4	K562	blood:

Variant related genes	Relation type
ENSG00000157764	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17133505	0.89[AFR][1000 genomes]
rs2159474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55676199	1.00[EUR][1000 genomes]
rs56306956	0.85[AFR][1000 genomes]
rs57519830	1.00[EUR][1000 genomes]
rs58233801	0.81[AFR][1000 genomes]
rs58444706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58554741	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58801847	1.00[EUR][1000 genomes]
rs59228498	1.00[EUR][1000 genomes]
rs59898525	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60144069	0.81[AFR][1000 genomes]
rs60606756	1.00[EUR][1000 genomes]
rs61142678	1.00[EUR][1000 genomes]
rs61398083	1.00[EUR][1000 genomes]
rs6464107	1.00[EUR][1000 genomes]
rs66565115	1.00[EUR][1000 genomes]
rs6970891	1.00[EUR][1000 genomes]
rs6974389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6977964	1.00[EUR][1000 genomes]
rs73491841	1.00[EUR][1000 genomes]
rs73494517	0.85[AFR][1000 genomes]
rs73494523	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73502739	1.00[EUR][1000 genomes]
rs73502751	1.00[EUR][1000 genomes]
rs73502755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73502794	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736258	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7786128	0.81[AFR][1000 genomes]
rs7806060	1.00[EUR][1000 genomes]
rs7810726	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv518139	chr7:140512661-140622355	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029363	chr7:140567136-140594073	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	esv2761117	chr7:140582100-140594085	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140549000-140594400	Weak transcription	Fetal Thymus	thymus
2	chr7:140570600-140606000	Weak transcription	Fetal Intestine Small	intestine
3	chr7:140577600-140598600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:140580400-140603200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:140582600-140599600	Weak transcription	Gastric	stomach
6	chr7:140586000-140591600	Enhancers	K562	blood
7	chr7:140586000-140599400	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:140586000-140611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:140586400-140592800	Weak transcription	Psoas Muscle	Psoas
10	chr7:140586400-140595000	Weak transcription	Primary B cells from cord blood	blood
11	chr7:140586400-140598600	Weak transcription	Brain Anterior Caudate	brain
12	chr7:140586400-140599600	Weak transcription	Adipose Nuclei	Adipose
13	chr7:140586400-140602000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:140587000-140595800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:140587200-140599400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:140587400-140591600	Weak transcription	Primary T cells from cord blood	blood
17	chr7:140587400-140599600	Weak transcription	Fetal Lung	lung
18	chr7:140587600-140596800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:140587800-140601800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:140588000-140593400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:140588000-140593600	Weak transcription	Lung	lung
22	chr7:140588200-140595600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:140588200-140598600	Weak transcription	A549	lung
24	chr7:140588400-140599000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:140588400-140599000	Weak transcription	Small Intestine	intestine
26	chr7:140588600-140591400	Weak transcription	Pancreas	Pancrea
27	chr7:140588600-140593400	Weak transcription	Right Atrium	heart
28	chr7:140588600-140599000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:140588600-140608400	Weak transcription	Ovary	ovary
30	chr7:140589400-140591800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:140589400-140596400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:140589600-140600000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:140589800-140591400	Weak transcription	Left Ventricle	heart
34	chr7:140589800-140592400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr7:140589800-140599000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:140589800-140599600	Weak transcription	Right Ventricle	heart
37	chr7:140589800-140612000	Weak transcription	Fetal Intestine Large	intestine
38	chr7:140590000-140603200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:140590400-140593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:140590600-140593800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:140590600-140595400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:140590600-140596800	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:140590600-140599600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:140590800-140607600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:140591000-140592400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:140591000-140592800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:140591000-140593800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:140591000-140599400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:140591200-140591600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:140591200-140600600	Weak transcription	Fetal Heart	heart

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