Variant report

Variant	rs17142974
Chromosome Location	chr7:120454487-120454488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120444604..120449026-chr7:120452675..120456263,4	K562	blood:
2	chr7:120452971..120457036-chr7:120458854..120462116,5	K562	blood:
3	chr7:120453641..120455987-chr7:120589602..120591542,2	MCF-7	breast:
4	chr7:120450263..120451894-chr7:120453543..120455198,2	K562	blood:
5	chr7:120454100..120457036-chr7:120458854..120461460,2	K562	blood:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10245393	1.00[ASN][1000 genomes]
rs10251949	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10252574	1.00[ASN][1000 genomes]
rs10256493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10256716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10272339	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10487403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[ASN][1000 genomes]
rs1468361	1.00[CHB][hapmap]
rs17142902	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17142908	1.00[CHB][hapmap]
rs17142964	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17142967	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41424845	1.00[JPT][hapmap]
rs4730974	1.00[JPT][hapmap]
rs6466755	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6944490	1.00[CHB][hapmap]
rs6971854	1.00[CEU][hapmap]
rs6977602	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73425840	1.00[ASN][1000 genomes]
rs7777916	0.81[ASN][1000 genomes]
rs7790895	1.00[JPT][hapmap]
rs7795370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7806523	0.81[ASN][1000 genomes]
rs7812111	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120425600-120470400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:120427400-120466000	Weak transcription	Fetal Stomach	stomach
3	chr7:120430400-120468200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:120432600-120455400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:120432600-120468400	Weak transcription	Lung	lung
6	chr7:120439200-120457800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:120439400-120469200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:120442600-120457400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:120444000-120457400	Weak transcription	Adipose Nuclei	Adipose
11	chr7:120445200-120494400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:120446000-120476200	Weak transcription	Left Ventricle	heart
13	chr7:120446400-120457800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:120446800-120462200	Weak transcription	GM12878-XiMat	blood
15	chr7:120447400-120471400	Weak transcription	Fetal Kidney	kidney
16	chr7:120447800-120465600	Weak transcription	Liver	Liver
17	chr7:120448400-120457400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:120449800-120457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:120449800-120476000	Weak transcription	HUVEC	blood vessel
20	chr7:120450600-120454800	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:120450600-120470400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:120450800-120454600	Weak transcription	Fetal Heart	heart
23	chr7:120452200-120454800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:120452600-120455000	Enhancers	Fetal Intestine Small	intestine
25	chr7:120452800-120476000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:120453800-120455600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:120453800-120455600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr7:120454000-120454600	Enhancers	Right Atrium	heart
29	chr7:120454200-120455000	Enhancers	Colon Smooth Muscle	Colon
30	chr7:120454200-120455200	Genic enhancers	Fetal Intestine Large	intestine
31	chr7:120454400-120454600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:120454400-120454600	Enhancers	Right Ventricle	heart
33	chr7:120454400-120455600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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