Variant report

Variant	rs9641849
Chromosome Location	chr7:128899238-128899239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128895520..128897910-chr7:128898805..128901095,3	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1000676	0.81[JPT][hapmap]
rs10248810	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs10257620	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954224	0.84[ASN][1000 genomes]
rs10954226	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10954230	0.81[JPT][hapmap]
rs11763056	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11763325	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11769045	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11979476	1.00[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12111832	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12112374	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12534372	0.81[JPT][hapmap]
rs12540568	0.81[JPT][hapmap]
rs12667132	0.81[JPT][hapmap]
rs13235668	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13235749	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1473236	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1526900	0.86[JPT][hapmap]
rs1559486	0.95[CEU][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs17168512	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1880854	0.82[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap]
rs2012919	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2056694	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2103232	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2141075	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2402945	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2566876	0.97[ASN][1000 genomes]
rs2566877	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2566885	0.83[EUR][1000 genomes]
rs2566886	0.83[EUR][1000 genomes]
rs2694572	0.86[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs2694574	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2718083	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2718084	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2718086	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2718115	0.82[ASN][1000 genomes]
rs2896415	0.85[ASN][1000 genomes]
rs4440569	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4728163	0.81[JPT][hapmap]
rs4728164	0.81[JPT][hapmap]
rs4731566	0.84[ASN][1000 genomes]
rs4731572	0.81[JPT][hapmap]
rs55638303	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56026912	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59659852	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60275163	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62480596	0.80[ASN][1000 genomes]
rs6467233	0.89[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467235	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6467243	0.83[EUR][1000 genomes]
rs66538149	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66864889	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66970518	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67520056	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67820265	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67853067	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67997229	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68076553	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs68187585	0.84[EUR][1000 genomes]
rs6942756	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6948252	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6949950	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6966595	0.91[CEU][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap]
rs6967464	0.82[EUR][1000 genomes]
rs6971917	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6974155	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6980385	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73472312	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7778277	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7780886	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7788327	0.86[CEU][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap]
rs7792317	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7803052	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7806089	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7811141	0.81[ASN][1000 genomes]
rs822038	0.91[CEU][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs822040	0.91[CEU][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs891545	0.82[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.82[ASN][1000 genomes]
rs963465	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9640854	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9641846	0.82[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031284	chr7:128866118-128910506	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3349195	chr7:128887559-128918489	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9641849	KCP	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128866000-128902200	Weak transcription	Gastric	stomach
2	chr7:128866600-128901400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:128867200-128909800	Weak transcription	Primary B cells from cord blood	blood
4	chr7:128882000-128899600	Weak transcription	Left Ventricle	heart
5	chr7:128892600-128914200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:128895800-128902200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:128897200-128900200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:128897400-128899400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:128897400-128900200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:128897400-128914200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:128897400-128919400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:128897800-128899400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:128897800-128899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:128898200-128899600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:128898200-128900000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:128898200-128901000	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:128898400-128899600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:128898400-128900200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:128898600-128899400	Enhancers	Brain Germinal Matrix	brain
20	chr7:128898600-128899600	Enhancers	Primary B cells from peripheral blood	blood
21	chr7:128898600-128899800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:128898600-128899800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:128898600-128900000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr7:128898600-128900200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:128898600-128900200	Enhancers	NHEK	skin
26	chr7:128898800-128899400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr7:128898800-128899600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr7:128898800-128899600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:128898800-128900000	Enhancers	Primary T cells from cord blood	blood
30	chr7:128898800-128900200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:128898800-128905200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:128898800-128919600	Weak transcription	Right Ventricle	heart
33	chr7:128899000-128899400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr7:128899000-128899600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr7:128899000-128899600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:128899000-128899800	Enhancers	Ovary	ovary
37	chr7:128899000-128900000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr7:128899000-128900000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:128899000-128900000	Enhancers	Psoas Muscle	Psoas
40	chr7:128899000-128901800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:128899000-128911600	Weak transcription	Brain Anterior Caudate	brain
42	chr7:128899200-128899400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:128899200-128899400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:128899200-128899400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:128899200-128899400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:128899200-128899400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr7:128899200-128899600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr7:128899200-128899600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:128899200-128899600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:128899200-128899800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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