Variant report

Variant	rs2301889
Chromosome Location	chr7:98931105-98931106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98922356..98924607-chr7:98930053..98932339,2	K562	blood:
2	chr7:98930477..98933217-chr7:98936894..98938700,2	K562	blood:
3	chr7:98921268..98926325-chr7:98927709..98931236,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241685	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10232076	0.99[ASN][1000 genomes]
rs10255399	0.81[ASN][1000 genomes]
rs10258757	0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs10267346	0.89[ASN][1000 genomes]
rs10268984	0.88[YRI][hapmap]
rs10270917	0.82[CHD][hapmap]
rs10272998	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10274407	0.99[ASN][1000 genomes]
rs10953286	0.95[JPT][hapmap]
rs10953287	0.99[ASN][1000 genomes]
rs11762273	0.82[CHD][hapmap]
rs17161652	0.88[GIH][hapmap];0.85[JPT][hapmap]
rs17161677	0.83[CHB][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs17161692	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17161698	0.84[GIH][hapmap]
rs1985453	0.84[GIH][hapmap]
rs2074652	0.85[JPT][hapmap]
rs2269985	0.84[GIH][hapmap]
rs2286162	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28468623	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28820905	0.85[ASN][1000 genomes]
rs3764815	0.84[GIH][hapmap]
rs3779354	1.00[CEU][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs3801288	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs58660994	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59725656	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948775	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6953476	0.99[ASN][1000 genomes]
rs6972337	0.99[ASN][1000 genomes]
rs6975099	0.99[ASN][1000 genomes]
rs73395547	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395557	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395580	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9641253	0.98[ASN][1000 genomes]
rs9768020	0.89[ASN][1000 genomes]
rs9918551	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98924400-98957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:98924600-98971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:98924800-98932600	Weak transcription	Aorta	Aorta
4	chr7:98924800-98935600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:98924800-98935600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:98924800-98935800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:98924800-98936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:98925200-98965200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:98925400-98935600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:98925600-98931200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:98925600-98936200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:98925800-98931200	Weak transcription	Gastric	stomach
13	chr7:98925800-98933600	Weak transcription	Colonic Mucosa	Colon
14	chr7:98926200-98931200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:98926200-98934200	Weak transcription	Spleen	Spleen
16	chr7:98926400-98931200	Weak transcription	Ovary	ovary
17	chr7:98926400-98933000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:98926400-98935600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:98926400-98935800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:98926600-98931200	Weak transcription	Lung	lung
21	chr7:98926600-98932600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:98926600-98941600	Weak transcription	Psoas Muscle	Psoas
23	chr7:98927200-98966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:98927400-98932600	Weak transcription	Brain Angular Gyrus	brain
25	chr7:98927400-98935400	Weak transcription	HSMMtube	muscle
26	chr7:98927400-98936400	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:98927600-98931200	Weak transcription	Fetal Lung	lung
28	chr7:98927600-98934200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:98927600-98944200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:98927800-98960600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:98928200-98938600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:98928400-98932800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:98928400-98933400	Weak transcription	Right Ventricle	heart
34	chr7:98928400-98934800	Weak transcription	HepG2	liver
35	chr7:98928400-98967200	Strong transcription	Fetal Thymus	thymus
36	chr7:98928600-98931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:98928600-98965200	Strong transcription	Dnd41	blood
38	chr7:98929000-98931200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:98929000-98931200	Weak transcription	Esophagus	oesophagus
40	chr7:98929000-98932800	Weak transcription	Right Atrium	heart
41	chr7:98929000-98935800	Weak transcription	Pancreas	Pancrea
42	chr7:98929000-98965600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:98929400-98933800	Strong transcription	NHEK	skin
44	chr7:98929400-98938600	Strong transcription	K562	blood
45	chr7:98929400-98965200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:98929600-98933200	Strong transcription	Primary T cells from cord blood	blood
47	chr7:98929600-98938600	Strong transcription	GM12878-XiMat	blood
48	chr7:98929600-98962800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr7:98929600-98965400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:98929800-98935200	Weak transcription	HMEC	breast

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