Variant report

Variant	rs6670396
Chromosome Location	chr1:212768897-212768898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212657982..212660814-chr1:212768286..212770089,2	K562	blood:
2	chr1:212730956..212733747-chr1:212768474..212770624,3	K562	blood:
3	chr1:212767988..212769850-chr1:212779796..212782944,3	MCF-7	breast:
4	chr1:212758746..212766071-chr1:212766312..212770844,12	K562	blood:
5	chr1:212729441..212732578-chr1:212767318..212772048,4	K562	blood:
6	chr1:212752565..212754879-chr1:212767873..212770095,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000260805	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11571532	1.00[ASN][1000 genomes]
rs11571536	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11571538	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11571552	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17019442	1.00[CHB][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs35777725	1.00[ASN][1000 genomes]
rs3890801	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55854080	1.00[ASN][1000 genomes]
rs6540751	1.00[ASN][1000 genomes]
rs6656504	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6666492	1.00[MEX][hapmap]
rs6682816	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72756370	1.00[ASN][1000 genomes]
rs72756371	1.00[ASN][1000 genomes]
rs74138596	1.00[ASN][1000 genomes]
rs74138599	1.00[ASN][1000 genomes]
rs74138600	1.00[ASN][1000 genomes]
rs74138601	1.00[ASN][1000 genomes]
rs7551520	1.00[ASN][1000 genomes]

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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212754000-212769200	Weak transcription	Spleen	Spleen
2	chr1:212766800-212769400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:212766800-212771200	Enhancers	Placenta	Placenta
4	chr1:212767200-212769000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:212767200-212769200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:212767200-212769200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:212767200-212769400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:212767200-212769400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:212767200-212770200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:212767200-212770600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:212767400-212769000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:212767400-212769800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:212767400-212770400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:212767600-212769400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:212767600-212769800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:212767800-212769400	Enhancers	A549	lung
17	chr1:212767800-212770400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:212768000-212769000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:212768000-212770400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:212768200-212769000	Enhancers	Brain Germinal Matrix	brain
21	chr1:212768400-212770200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:212768600-212769000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:212768600-212769000	Enhancers	HMEC	breast
24	chr1:212768600-212769200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:212768600-212769400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:212768600-212769400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:212768600-212769400	Enhancers	HUVEC	blood vessel
28	chr1:212768600-212769800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:212768600-212770000	Flanking Active TSS	Dnd41	blood
30	chr1:212768600-212770200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr1:212768600-212770400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:212768600-212771200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:212768600-212771200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:212768600-212771400	Enhancers	Fetal Intestine Small	intestine
35	chr1:212768800-212769000	Enhancers	NH-A	brain
36	chr1:212768800-212769000	Enhancers	NHEK	skin
37	chr1:212768800-212769200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:212768800-212769200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr1:212768800-212769200	Flanking Active TSS	Hela-S3	cervix
40	chr1:212768800-212769400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:212768800-212769400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:212768800-212769400	Enhancers	Small Intestine	intestine
43	chr1:212768800-212769400	Enhancers	K562	blood
44	chr1:212768800-212769600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:212768800-212769600	Enhancers	Thymus	Thymus
46	chr1:212768800-212769800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr1:212768800-212769800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:212768800-212769800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:212768800-212770000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr1:212768800-212770000	Enhancers	HUES64 Cell Line	embryonic stem cell

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