Variant report

Variant	rs72711407
Chromosome Location	chr1:173763601-173763602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173761583..173764570-chr1:173821464..173823065,2	K562	blood:
2	chr1:173762020..173765733-chr1:173791357..173796125,4	K562	blood:
3	chr1:173750986..173752588-chr1:173763404..173765027,2	K562	blood:

Variant related genes	Relation type
ENSG00000076321	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61826778	0.90[EUR][1000 genomes]
rs61827866	1.00[EUR][1000 genomes]
rs61827871	0.95[EUR][1000 genomes]
rs72709385	0.87[AMR][1000 genomes];0.91[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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active 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	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine
4	chr1:173736600-173792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:173744800-173790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:173745000-173767400	Weak transcription	NHEK	skin
7	chr1:173745000-173792400	Weak transcription	Psoas Muscle	Psoas
8	chr1:173745200-173765200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:173747800-173769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:173749200-173792600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:173749800-173777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:173751200-173773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:173751400-173769000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:173751400-173792200	Weak transcription	Fetal Kidney	kidney
15	chr1:173751800-173774600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:173752600-173790000	Weak transcription	HepG2	liver
17	chr1:173752800-173771800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:173752800-173777000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:173753200-173774400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:173753200-173792200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:173753200-173792800	Weak transcription	Esophagus	oesophagus
22	chr1:173753400-173765400	Weak transcription	Fetal Stomach	stomach
23	chr1:173753400-173767200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:173753400-173772200	Weak transcription	Aorta	Aorta
25	chr1:173753400-173774400	Weak transcription	Ovary	ovary
26	chr1:173753400-173775000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:173753400-173787800	Weak transcription	Right Ventricle	heart
28	chr1:173753400-173792600	Weak transcription	Spleen	Spleen
29	chr1:173753400-173792800	Weak transcription	Gastric	stomach
30	chr1:173753400-173792800	Weak transcription	Pancreas	Pancrea
31	chr1:173753600-173787600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:173753600-173792600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:173753800-173767800	Weak transcription	A549	lung
34	chr1:173754000-173774400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:173754000-173774600	Weak transcription	Brain Anterior Caudate	brain
36	chr1:173754200-173792200	Weak transcription	Fetal Brain Female	brain
37	chr1:173754400-173774800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:173754400-173782200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:173754400-173786000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:173754400-173792600	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:173754800-173765000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:173755000-173772200	Weak transcription	Left Ventricle	heart
43	chr1:173755200-173791600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:173755400-173766000	Weak transcription	HUVEC	blood vessel
45	chr1:173755400-173766400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:173755400-173767200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:173755400-173767800	Weak transcription	NH-A	brain
48	chr1:173755400-173769200	Weak transcription	Primary B cells from cord blood	blood
49	chr1:173755400-173772000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:173755400-173772000	Weak transcription	Duodenum Mucosa	Duodenum

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