Variant report

Variant	rs9436630
Chromosome Location	chr1:61585673-61585674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:61585600-61586225	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61546278..61549906-chr1:61584945..61588150,4	K562	blood:
2	chr1:61585628..61588441-chr1:61589112..61591565,4	K562	blood:
3	chr1:61585280..61587671-chr1:61616173..61618887,2	K562	blood:
4	chr1:61545786..61550294-chr1:61584630..61589625,7	K562	blood:
5	chr1:61521188..61523261-chr1:61583474..61586081,2	K562	blood:
6	chr1:61584667..61586384-chr1:61605041..61607679,2	K562	blood:
7	chr1:61581224..61584130-chr1:61584946..61587313,5	K562	blood:
8	chr1:61584347..61588308-chr1:61598128..61600644,3	K562	blood:
9	chr1:61585280..61588265-chr1:61616173..61618887,3	K562	blood:
10	chr1:61582646..61586479-chr1:61593014..61597030,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270742	TF binding region
ENSG00000270742	Chromatin interaction
ENSG00000263380	Chromatin interaction
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10493302	1.00[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.82[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10889206	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12082005	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12133298	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1391432	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1909118	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2050544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2807990	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs334707	0.81[YRI][hapmap]
rs334708	0.87[GIH][hapmap];0.81[YRI][hapmap]
rs334735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs334736	0.89[EUR][1000 genomes]
rs334738	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs384893	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4430360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4620575	0.91[CHD][hapmap];0.82[JPT][hapmap]
rs6670604	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.82[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs964091	0.91[CHD][hapmap];0.82[JPT][hapmap]

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61558600-61586000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:61563600-61586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:61563800-61585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:61564400-61587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:61575000-61586200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:61579200-61586000	Enhancers	Liver	Liver
7	chr1:61581400-61586400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:61581400-61586600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:61581400-61592000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:61581400-61604600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:61581600-61589800	Weak transcription	Esophagus	oesophagus
12	chr1:61582200-61586000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:61582200-61586200	Weak transcription	HSMMtube	muscle
14	chr1:61582400-61586000	Weak transcription	Aorta	Aorta
15	chr1:61582400-61586000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:61582400-61586000	Weak transcription	NHLF	lung
17	chr1:61582400-61604800	Weak transcription	Hela-S3	cervix
18	chr1:61583000-61586000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:61583000-61586200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:61584000-61586000	Enhancers	Brain Anterior Caudate	brain
21	chr1:61584000-61586000	Enhancers	Colon Smooth Muscle	Colon
22	chr1:61584000-61586200	Enhancers	Fetal Heart	heart
23	chr1:61584000-61586600	Enhancers	Fetal Brain Male	brain
24	chr1:61584200-61585800	Enhancers	Brain Substantia Nigra	brain
25	chr1:61584200-61586000	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:61584200-61586000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:61584400-61585800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:61584400-61586000	Enhancers	Stomach Smooth Muscle	stomach
29	chr1:61584400-61590000	Enhancers	A549	lung
30	chr1:61584400-61591000	Enhancers	Fetal Lung	lung
31	chr1:61584400-61591600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:61584600-61586000	Enhancers	Adipose Nuclei	Adipose
33	chr1:61584600-61586000	Weak transcription	Brain Angular Gyrus	brain
34	chr1:61584600-61586000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:61584600-61586000	Weak transcription	Right Atrium	heart
36	chr1:61584600-61587200	Weak transcription	Fetal Stomach	stomach
37	chr1:61584600-61587200	Weak transcription	Spleen	Spleen
38	chr1:61584600-61588400	Weak transcription	Left Ventricle	heart
39	chr1:61584600-61589800	Weak transcription	Gastric	stomach
40	chr1:61584600-61589800	Weak transcription	Pancreas	Pancrea
41	chr1:61584600-61589800	Weak transcription	Right Ventricle	heart
42	chr1:61584600-61597800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:61584800-61586000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:61585000-61586000	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:61585000-61586000	Weak transcription	Psoas Muscle	Psoas
46	chr1:61585000-61587600	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:61585000-61597400	Weak transcription	Ovary	ovary
48	chr1:61585200-61585800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:61585200-61586200	Weak transcription	Brain Germinal Matrix	brain
50	chr1:61585400-61585800	Flanking Active TSS	K562	blood

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