Variant report

Variant	rs6701103
Chromosome Location	chr1:10140253-10140254
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	chr1:10133208..10136179-chr1:10139404..10141343,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11801988	1.00[EUR][1000 genomes]
rs11803995	1.00[EUR][1000 genomes]
rs11808311	1.00[EUR][1000 genomes]
rs28671063	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41280788	1.00[EUR][1000 genomes]
rs56682893	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56760324	1.00[EUR][1000 genomes]
rs57216908	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58453167	0.84[EUR][1000 genomes]
rs61134758	0.94[EUR][1000 genomes]
rs61462323	1.00[EUR][1000 genomes]
rs6676768	0.84[EUR][1000 genomes]
rs6693686	1.00[EUR][1000 genomes]
rs72859590	1.00[EUR][1000 genomes]
rs72861431	1.00[EUR][1000 genomes]
rs72861447	1.00[EUR][1000 genomes]
rs72861453	1.00[EUR][1000 genomes]
rs9661116	1.00[EUR][1000 genomes]
rs9661131	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:10116600-10145000	Weak transcription	Stomach Mucosa	stomach
7	chr1:10118200-10163000	Weak transcription	Aorta	Aorta
8	chr1:10119200-10155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:10120000-10156400	Weak transcription	Spleen	Spleen
10	chr1:10120000-10162600	Weak transcription	Gastric	stomach
11	chr1:10120400-10163000	Weak transcription	Fetal Kidney	kidney
12	chr1:10121800-10141400	Weak transcription	Hela-S3	cervix
13	chr1:10124400-10155200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:10124600-10140600	Weak transcription	Fetal Brain Female	brain
15	chr1:10125800-10165400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:10125800-10165400	Weak transcription	Fetal Brain Male	brain
17	chr1:10126000-10154800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:10126000-10161000	Weak transcription	A549	lung
19	chr1:10126400-10162800	Weak transcription	Brain Germinal Matrix	brain
20	chr1:10126400-10163000	Weak transcription	Pancreas	Pancrea
21	chr1:10126400-10165400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:10127800-10140600	Weak transcription	Fetal Lung	lung
23	chr1:10128000-10144800	Weak transcription	Psoas Muscle	Psoas
24	chr1:10129000-10145200	Weak transcription	Right Atrium	heart
25	chr1:10132200-10145000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:10132200-10156000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:10132400-10140600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:10132400-10155200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:10132400-10155400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:10132400-10163000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:10132600-10162600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:10132600-10165400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:10134600-10140600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:10134600-10166200	Weak transcription	Colonic Mucosa	Colon
35	chr1:10134600-10166600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:10134800-10141600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:10134800-10163000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:10135000-10143400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:10135000-10154800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:10135000-10160400	Weak transcription	Ovary	ovary
41	chr1:10135200-10143600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:10135200-10155400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:10135200-10155400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:10135200-10164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:10135200-10165400	Weak transcription	HUVEC	blood vessel
46	chr1:10135400-10140600	Weak transcription	K562	blood
47	chr1:10135400-10144000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:10135600-10140600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:10135600-10143000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:10135600-10143200	Weak transcription	HSMM	muscle

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