Variant report

Variant	rs558703629
Chromosome Location	chr1:10841312-10841313
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10841137..10843114-chr1:10851742..10854578,2	MCF-7	breast:
2	chr1:10813459..10815846-chr1:10840414..10843318,2	MCF-7	breast:
3	chr1:10825621..10828554-chr1:10840035..10841638,2	MCF-7	breast:
4	chr1:10837831..10840252-chr1:10841183..10844636,3	K562	blood:
5	chr1:10831963..10834862-chr1:10839616..10841721,3	MCF-7	breast:
6	chr1:10839933..10841952-chr1:10961257..10963850,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014818	chr1:10675978-10846823	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv29966	chr1:10676800-10874152	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv464838	chr1:10684098-10842021	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv545400	chr1:10684098-10842021	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv870849	chr1:10694125-10894724	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv832314	chr1:10704811-10859919	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv871772	chr1:10832322-10894724	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv870589	chr1:10840905-10901994	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10832600-10853400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10838200-10841800	Enhancers	Psoas Muscle	Psoas
3	chr1:10838600-10842200	Weak transcription	Fetal Kidney	kidney
4	chr1:10838600-10843200	Enhancers	Left Ventricle	heart
5	chr1:10838600-10852400	Enhancers	Fetal Heart	heart
6	chr1:10838800-10841600	Enhancers	Lung	lung
7	chr1:10838800-10843600	Enhancers	Stomach Mucosa	stomach
8	chr1:10839200-10841600	Weak transcription	Small Intestine	intestine
9	chr1:10839200-10843000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:10839400-10841600	Enhancers	Pancreas	Pancrea
11	chr1:10839600-10842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:10840000-10841400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:10840000-10842000	Enhancers	Esophagus	oesophagus
14	chr1:10840200-10841600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:10840200-10843400	Enhancers	Stomach Smooth Muscle	stomach
16	chr1:10840400-10841600	Enhancers	Fetal Muscle Leg	muscle
17	chr1:10840400-10841800	Enhancers	Colonic Mucosa	Colon
18	chr1:10840400-10842400	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:10840400-10842800	Enhancers	Right Ventricle	heart
20	chr1:10840400-10843600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:10840400-10845400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:10840400-10845600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:10840400-10846200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:10840400-10848600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:10840600-10842000	Weak transcription	Fetal Intestine Large	intestine
26	chr1:10840600-10842600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr1:10840600-10844600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:10841000-10841400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:10841000-10841600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr1:10841000-10843000	Weak transcription	Fetal Intestine Small	intestine
31	chr1:10841200-10841600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:10841200-10841800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:10841200-10842200	Enhancers	Right Atrium	heart
34	chr1:10841200-10842400	Enhancers	Gastric	stomach
35	chr1:10841200-10842600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr1:10841200-10843600	Enhancers	Colon Smooth Muscle	Colon

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