Variant report

Variant	rs7546642
Chromosome Location	chr1:10238770-10238771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:10238698-10239971	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
UBE4B	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11812055	0.83[AMR][1000 genomes]
rs6682295	0.94[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs6695456	1.00[CEU][hapmap]
rs6702375	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs997482	0.86[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:10226400-10238800	Weak transcription	NHEK	skin
4	chr1:10230400-10245800	Weak transcription	Stomach Mucosa	stomach
5	chr1:10230800-10241200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:10231200-10251600	Weak transcription	Right Atrium	heart
7	chr1:10231400-10242200	Strong transcription	Fetal Intestine Small	intestine
8	chr1:10231800-10239800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:10232000-10239400	Weak transcription	Pancreas	Pancrea
10	chr1:10232400-10239400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:10232600-10238800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:10232800-10246800	Weak transcription	Fetal Kidney	kidney
13	chr1:10233000-10238800	Weak transcription	HUVEC	blood vessel
14	chr1:10233000-10239600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:10233200-10239000	Weak transcription	K562	blood
16	chr1:10233200-10239400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:10233200-10240200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:10233200-10240200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:10233200-10241800	Weak transcription	A549	lung
20	chr1:10233200-10242400	Weak transcription	Fetal Heart	heart
21	chr1:10233200-10258200	Weak transcription	Hela-S3	cervix
22	chr1:10233400-10238800	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:10233400-10238800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:10233400-10239400	Weak transcription	Colonic Mucosa	Colon
25	chr1:10233800-10239200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:10233800-10239600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:10234000-10238800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:10234000-10238800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:10234000-10238800	Weak transcription	Osteobl	bone
30	chr1:10234000-10239000	Weak transcription	Esophagus	oesophagus
31	chr1:10234000-10239200	Weak transcription	GM12878-XiMat	blood
32	chr1:10234000-10239200	Weak transcription	HSMMtube	muscle
33	chr1:10234000-10239400	Weak transcription	HMEC	breast
34	chr1:10234200-10238800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:10234200-10239200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:10234200-10239400	Weak transcription	Gastric	stomach
37	chr1:10234200-10249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:10234400-10238800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:10235200-10239800	Weak transcription	NH-A	brain
40	chr1:10235400-10238800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:10235400-10238800	Weak transcription	Right Ventricle	heart
42	chr1:10235400-10238800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:10235400-10238800	Weak transcription	NHLF	lung
44	chr1:10235400-10239000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:10235400-10239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:10235400-10239200	Weak transcription	Brain Angular Gyrus	brain
47	chr1:10235400-10239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:10235400-10239400	Weak transcription	Aorta	Aorta
49	chr1:10235600-10239000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:10235600-10240000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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