Variant report

Variant	rs147940730
Chromosome Location	chr1:174794577-174794578
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	chr1:174787877..174789729-chr1:174792923..174795229,2	K562	blood:
2	chr1:174793359..174795191-chr1:174840553..174843195,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1824383	chr1:174764839-174801748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1844306	chr1:174764839-174801748	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1819206	chr1:174764839-174802731	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1844208	chr1:174764839-174818547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1847553	chr1:174764839-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1820274	chr1:174782523-174802731	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv548199	chr1:174793691-174800435	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv548200	chr1:174793691-174800585	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv548201	chr1:174793691-174800872	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv548202	chr1:174793691-174801639	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv548203	chr1:174793691-174801748	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1824588	chr1:174794108-174801953	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1848074	chr1:174794108-174801953	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv548204	chr1:174794144-174800435	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv548205	chr1:174794144-174801085	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv516953	chr1:174794144-174801639	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv548206	chr1:174794144-174801639	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv548207	chr1:174794144-174801748	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv1816716	chr1:174794144-174802731	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv1819417	chr1:174794144-174802731	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv1819946	chr1:174794144-174802731	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv1823683	chr1:174794144-174802731	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv1844209	chr1:174794144-174802731	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv1845045	chr1:174794144-174802731	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv1848812	chr1:174794144-174802731	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv1851197	chr1:174794144-174802731	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	nsv437280	chr1:174794144-174805122	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	nsv437291	chr1:174794144-174805122	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	nsv437302	chr1:174794144-174805122	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	esv1815488	chr1:174794144-174818547	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	esv1821003	chr1:174794144-174818547	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	esv1844568	chr1:174794144-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
37	nsv872556	chr1:174794420-174819336	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	esv3453124	chr1:174794529-174801327	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv3453125	chr1:174794529-174801327	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv8547	chr1:174794541-174801956	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174772200-174796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:174777600-174799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:174782000-174800800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:174782200-174794800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:174782600-174799200	Weak transcription	Liver	Liver
7	chr1:174784400-174797200	Weak transcription	Esophagus	oesophagus
8	chr1:174784800-174806600	Weak transcription	HSMMtube	muscle
9	chr1:174785600-174796000	Weak transcription	Primary B cells from cord blood	blood
10	chr1:174785600-174796800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:174786800-174798200	Weak transcription	Left Ventricle	heart
12	chr1:174789000-174797400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:174792600-174801600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:174794000-174795800	Enhancers	Thymus	Thymus
15	chr1:174794200-174796400	Enhancers	Fetal Thymus	thymus
16	chr1:174794400-174797400	Weak transcription	NHEK	skin

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