Variant report

Variant	rs2229175
Chromosome Location	chr1:150795775-150795776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150794318..150797920-chr1:150799391..150802153,4	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10305740	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap]
rs10305742	1.00[CHD][hapmap]
rs10305754	1.00[LWK][hapmap]
rs11807967	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs12032880	1.00[LWK][hapmap]
rs12072331	1.00[GIH][hapmap]
rs12077457	1.00[LWK][hapmap]
rs12124031	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs2275237	1.00[CHD][hapmap]
rs6587519	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv2788	chr1:150755334-150800785	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv872420	chr1:150786038-150847647	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150782200-150795800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150782200-150809600	Strong transcription	Fetal Muscle Leg	muscle
3	chr1:150782200-150809800	Strong transcription	Stomach Smooth Muscle	stomach
4	chr1:150782200-150813000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:150782400-150812200	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr1:150782600-150796600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:150782600-150802800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:150782800-150795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:150783000-150795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:150783000-150797000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:150783200-150795800	Strong transcription	NH-A	brain
12	chr1:150783200-150796000	Strong transcription	Adipose Nuclei	Adipose
13	chr1:150783200-150796000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr1:150783200-150797000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:150783200-150809800	Strong transcription	Fetal Thymus	thymus
16	chr1:150783200-150816600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:150783200-150816800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:150784000-150802000	Strong transcription	Fetal Lung	lung
19	chr1:150784200-150796000	Strong transcription	Fetal Intestine Large	intestine
20	chr1:150785800-150806400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:150785800-150812400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:150786000-150796000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:150786000-150808600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:150788200-150796000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:150788400-150795800	Strong transcription	Primary T cells from cord blood	blood
26	chr1:150788400-150795800	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr1:150788400-150795800	Strong transcription	Brain Substantia Nigra	brain
28	chr1:150788400-150795800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:150788400-150796000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:150788400-150808000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr1:150788400-150809800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:150788400-150812200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:150788800-150795800	Strong transcription	Ovary	ovary
34	chr1:150788800-150797200	Strong transcription	HUVEC	blood vessel
35	chr1:150789400-150801000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:150789600-150798000	Weak transcription	Stomach Mucosa	stomach
37	chr1:150789600-150801000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:150789800-150798800	Weak transcription	A549	lung
39	chr1:150790000-150799800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:150790000-150801400	Weak transcription	Fetal Brain Male	brain
41	chr1:150790000-150804600	Weak transcription	Pancreas	Pancrea
42	chr1:150790600-150798200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:150790600-150801000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:150790600-150802400	Weak transcription	Esophagus	oesophagus
45	chr1:150790800-150811400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:150791200-150796200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:150791200-150806600	Weak transcription	Small Intestine	intestine
48	chr1:150791800-150796000	Strong transcription	Primary B cells from cord blood	blood
49	chr1:150791800-150796000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr1:150791800-150809000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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