Variant report

Variant	rs6679112
Chromosome Location	chr1:10127700-10127701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10127243..10129600-chr1:10132450..10134898,2	K562	blood:
2	chr1:10092845..10094732-chr1:10126602..10129302,2	K562	blood:
3	chr1:10123267..10128743-chr1:10130766..10138737,8	K562	blood:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11804755	1.00[EUR][1000 genomes]
rs17034549	1.00[EUR][1000 genomes]
rs17034554	1.00[EUR][1000 genomes]
rs41280804	1.00[EUR][1000 genomes]
rs6678222	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6679221	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72859583	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10095000-10127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:10095200-10134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:10098800-10131200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:10106400-10134000	Weak transcription	Colonic Mucosa	Colon
6	chr1:10106800-10128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:10106800-10134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:10107400-10135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:10113000-10132000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:10116600-10145000	Weak transcription	Stomach Mucosa	stomach
15	chr1:10118200-10163000	Weak transcription	Aorta	Aorta
16	chr1:10118800-10132000	Weak transcription	Primary T cells from cord blood	blood
17	chr1:10119200-10155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:10119600-10132000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:10119800-10132200	Weak transcription	Thymus	Thymus
20	chr1:10120000-10128400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:10120000-10156400	Weak transcription	Spleen	Spleen
22	chr1:10120000-10162600	Weak transcription	Gastric	stomach
23	chr1:10120200-10128400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:10120200-10131800	Weak transcription	Primary B cells from cord blood	blood
25	chr1:10120400-10132000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:10120400-10134400	Weak transcription	Dnd41	blood
27	chr1:10120400-10163000	Weak transcription	Fetal Kidney	kidney
28	chr1:10120800-10134200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:10121800-10141400	Weak transcription	Hela-S3	cervix
30	chr1:10124000-10128000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:10124000-10128000	Enhancers	Psoas Muscle	Psoas
32	chr1:10124200-10127800	Enhancers	HUVEC	blood vessel
33	chr1:10124200-10128200	Enhancers	Brain Substantia Nigra	brain
34	chr1:10124200-10128400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:10124400-10127800	Enhancers	Colon Smooth Muscle	Colon
36	chr1:10124400-10128400	Weak transcription	Esophagus	oesophagus
37	chr1:10124400-10155200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:10124600-10127800	Enhancers	Brain Cingulate Gyrus	brain
39	chr1:10124600-10128000	Enhancers	Adipose Nuclei	Adipose
40	chr1:10124600-10128000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:10124600-10130800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:10124600-10131600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:10124600-10140600	Weak transcription	Fetal Brain Female	brain
44	chr1:10124800-10128600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:10124800-10128600	Enhancers	NHEK	skin
46	chr1:10124800-10128800	Enhancers	HMEC	breast
47	chr1:10124800-10134000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:10125000-10127800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:10125200-10127800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:10125200-10127800	Enhancers	Fetal Heart	heart

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