Variant report

Variant	rs111403864
Chromosome Location	chr1:212954939-212954940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212781936..212785514-chr1:212953111..212956420,3	K562	blood:
2	chr1:212880638..212882671-chr1:212954143..212956179,2	K562	blood:
3	chr1:212953290..212958548-chr1:212960806..212967767,9	K562	blood:
4	chr1:212782588..212784090-chr1:212954271..212956784,2	K562	blood:

Variant related genes	Relation type
ENSG00000117697	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000162772	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549148	chr1:212876902-212962207	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1010003	chr1:212944240-212986996	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	nsv947467	chr1:212954839-212957948	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
2	chr1:212895600-212964600	Weak transcription	Gastric	stomach
3	chr1:212923600-212956200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:212923600-212963800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:212923600-212964400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:212923800-212957600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:212923800-212964200	Weak transcription	HMEC	breast
8	chr1:212926600-212963400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:212927400-212963400	Weak transcription	Small Intestine	intestine
10	chr1:212927400-212964200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:212928400-212956200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:212936600-212956000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:212936600-212956200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:212936600-212956200	Weak transcription	Thymus	Thymus
15	chr1:212936600-212959800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:212936600-212960200	Weak transcription	Lung	lung
17	chr1:212936600-212964400	Weak transcription	Esophagus	oesophagus
18	chr1:212939400-212956200	Weak transcription	Fetal Stomach	stomach
19	chr1:212941200-212964200	Weak transcription	Right Ventricle	heart
20	chr1:212942400-212964200	Weak transcription	Aorta	Aorta
21	chr1:212942600-212964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:212942800-212956400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:212942800-212964200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:212943200-212956200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:212943200-212956200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:212943200-212964200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:212943600-212957800	Weak transcription	Brain Anterior Caudate	brain
28	chr1:212943800-212955400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:212944000-212956800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:212944000-212958000	Weak transcription	Brain Substantia Nigra	brain
31	chr1:212944200-212956000	Weak transcription	Primary T cells from cord blood	blood
32	chr1:212944200-212956200	Weak transcription	Psoas Muscle	Psoas
33	chr1:212944200-212956800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:212944200-212964400	Weak transcription	Fetal Heart	heart
35	chr1:212944400-212955200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:212944400-212956200	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:212945600-212956000	Weak transcription	NHLF	lung
38	chr1:212945800-212955800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:212945800-212959800	Weak transcription	Ovary	ovary
40	chr1:212947800-212956000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:212948200-212956000	Weak transcription	NHDF-Ad	bronchial
42	chr1:212948400-212956000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:212948400-212960000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:212949000-212955600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:212950400-212964200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:212950800-212959800	Weak transcription	Fetal Intestine Small	intestine
47	chr1:212951600-212956200	Weak transcription	HepG2	liver
48	chr1:212951800-212964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:212952400-212963000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:212952600-212963600	Weak transcription	Colonic Mucosa	Colon

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