Variant report

Variant	rs376821130
Chromosome Location	chr1:212980171-212980172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212976311..212977926-chr1:212979767..212982509,2	K562	blood:
2	chr1:212977806..212980707-chr1:213030715..213033244,2	K562	blood:

Variant related genes	Relation type
ENSG00000162769	Chromatin interaction
ENSG00000198468	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv3451953	chr1:212979379-212981477	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212965800-212992600	Weak transcription	Lung	lung
2	chr1:212966000-212981200	Weak transcription	Esophagus	oesophagus
3	chr1:212966000-212983000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:212966000-212997400	Weak transcription	Aorta	Aorta
5	chr1:212966400-212984000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:212966400-212985600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:212966400-212988200	Weak transcription	Fetal Heart	heart
8	chr1:212966400-212989600	Weak transcription	Fetal Brain Male	brain
9	chr1:212966400-212990200	Weak transcription	Right Ventricle	heart
10	chr1:212966800-212989600	Weak transcription	Psoas Muscle	Psoas
11	chr1:212967000-212984400	Weak transcription	Spleen	Spleen
12	chr1:212967200-212984000	Weak transcription	NHDF-Ad	bronchial
13	chr1:212967200-212988400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:212967200-212989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:212967200-212989600	Weak transcription	NHLF	lung
16	chr1:212968000-212987400	Weak transcription	Fetal Intestine Large	intestine
17	chr1:212968400-212988000	Weak transcription	Stomach Mucosa	stomach
18	chr1:212968600-212980200	Weak transcription	HUVEC	blood vessel
19	chr1:212969000-212982600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:212969000-212982600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:212969000-212983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:212969600-212989000	Weak transcription	HepG2	liver
23	chr1:212969600-212993000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:212970600-212982800	Weak transcription	Ovary	ovary
25	chr1:212970600-212985200	Weak transcription	Pancreas	Pancrea
26	chr1:212970600-212989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:212971000-212989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:212971200-212983800	Weak transcription	NH-A	brain
29	chr1:212971200-212990200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:212971400-212987600	Weak transcription	Small Intestine	intestine
31	chr1:212971400-212987800	Weak transcription	A549	lung
32	chr1:212971600-212988000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:212972000-212987800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:212972400-212983000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:212972400-212987800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:212972400-212993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:212972600-212983200	Weak transcription	Gastric	stomach
38	chr1:212972600-212983600	Weak transcription	Fetal Kidney	kidney
39	chr1:212972600-212988000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:212972600-212988000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:212972600-212988000	Weak transcription	Fetal Intestine Small	intestine
42	chr1:212972600-212989800	Weak transcription	HSMMtube	muscle
43	chr1:212972600-212990200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:212973000-212988600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:212973400-212981000	Weak transcription	GM12878-XiMat	blood
46	chr1:212973600-212982800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:212973800-212982800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:212974600-212980400	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:212974600-212981000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:212975000-212980400	Weak transcription	Left Ventricle	heart

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