Variant report

Variant	rs191535
Chromosome Location	chr1:120204208-120204209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120188687..120197065-chr1:120197482..120205927,19	MCF-7	breast:
2	chr1:120204131..120206731-chr1:120214943..120217556,2	MCF-7	breast:
3	chr1:120199135..120202649-chr1:120203344..120207418,4	K562	blood:

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6687952	1.00[CHD][hapmap]
rs920514	1.00[JPT][hapmap]

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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120199400-120204600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:120202000-120206000	Enhancers	Fetal Intestine Small	intestine
3	chr1:120202200-120205000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:120202200-120205400	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:120202200-120206000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:120202200-120206200	Enhancers	Fetal Intestine Large	intestine
7	chr1:120202600-120206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:120202800-120204400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:120202800-120206400	Weak transcription	Ovary	ovary
10	chr1:120203000-120204600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:120203000-120204800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:120203000-120205600	Weak transcription	Fetal Heart	heart
13	chr1:120203400-120204600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:120203400-120204600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:120203400-120204800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:120203400-120204800	Enhancers	Liver	Liver
17	chr1:120203400-120205200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:120203400-120205600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:120203400-120205800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr1:120203400-120206600	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:120203400-120206600	Weak transcription	Placenta	Placenta
22	chr1:120203600-120204600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:120203800-120204600	Enhancers	Colonic Mucosa	Colon
24	chr1:120203800-120207000	Weak transcription	Fetal Lung	lung
25	chr1:120203800-120217800	Weak transcription	Fetal Stomach	stomach
26	chr1:120204000-120204600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:120204000-120205400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:120204200-120205200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:120204200-120205400	Flanking Active TSS	GM12878-XiMat	blood
30	chr1:120204200-120205600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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