Variant report

Variant	rs6717896
Chromosome Location	chr2:74241128-74241129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74239075..74241270-chr2:74247074..74248631,2	K562	blood:
2	chr2:74238286..74241137-chr2:74245038..74247352,3	MCF-7	breast:
3	chr2:74232878..74235136-chr2:74239578..74243799,4	MCF-7	breast:
4	chr2:74233005..74244618-chr2:74246652..74253562,14	MCF-7	breast:
5	chr2:74239770..74244279-chr2:74244536..74249851,6	K562	blood:
6	chr2:74232391..74233898-chr2:74239734..74241250,2	K562	blood:
7	chr2:74211886..74213612-chr2:74239870..74241677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10164943	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs10168249	0.94[EUR][1000 genomes]
rs10168408	0.94[EUR][1000 genomes]
rs10168410	0.82[EUR][1000 genomes]
rs10179967	0.81[EUR][1000 genomes]
rs10188058	1.00[CHB][hapmap]
rs10191539	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs10200470	0.82[EUR][1000 genomes]
rs1025424	1.00[CHB][hapmap]
rs11126424	0.85[EUR][1000 genomes]
rs11683738	1.00[CHB][hapmap]
rs11884748	0.90[EUR][1000 genomes]
rs11885172	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs11886928	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs11898903	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328927	0.89[EUR][1000 genomes]
rs12713803	0.90[EUR][1000 genomes]
rs12713804	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs12713805	0.93[EUR][1000 genomes]
rs12713806	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs12713808	0.82[EUR][1000 genomes]
rs12713809	0.81[EUR][1000 genomes]
rs12713810	0.86[CEU][hapmap]
rs12988533	0.93[EUR][1000 genomes]
rs12991192	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12995468	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005103	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006301	0.83[EUR][1000 genomes]
rs13006407	0.85[EUR][1000 genomes]
rs13011961	1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013211	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014576	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs13016198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019449	1.00[ASN][1000 genomes]
rs13021880	0.82[EUR][1000 genomes]
rs13027288	0.81[EUR][1000 genomes]
rs13027623	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030414	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13387010	0.82[EUR][1000 genomes]
rs17404009	1.00[CHB][hapmap]
rs17676291	1.00[CHB][hapmap]
rs17725971	1.00[CHB][hapmap]
rs28450901	0.91[EUR][1000 genomes]
rs34136450	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34201525	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35592918	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35609589	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3902790	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4073048	0.81[EUR][1000 genomes]
rs4241260	0.83[EUR][1000 genomes]
rs4270374	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4328662	0.94[EUR][1000 genomes]
rs4331526	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs4364046	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs4371381	0.91[EUR][1000 genomes]
rs4374402	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416242	0.88[EUR][1000 genomes]
rs4422181	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574138	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs4621184	0.82[EUR][1000 genomes]
rs4852326	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs4853003	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs4853005	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs4853006	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs4853007	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs4853009	0.82[EUR][1000 genomes]
rs6546884	0.91[EUR][1000 genomes]
rs6546885	0.93[EUR][1000 genomes]
rs6546886	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6546887	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs6706327	0.86[EUR][1000 genomes]
rs6712566	1.00[ASN][1000 genomes]
rs6713313	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6714186	0.95[EUR][1000 genomes]
rs6741544	0.82[EUR][1000 genomes]
rs6743073	0.94[EUR][1000 genomes]
rs6745236	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs6745576	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs6745792	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs6754218	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755711	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6756474	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs71337722	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71406850	1.00[ASN][1000 genomes]
rs7560668	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs7584777	0.81[EUR][1000 genomes]
rs7587991	0.80[EUR][1000 genomes]
rs7589915	0.82[EUR][1000 genomes]
rs7592749	0.80[EUR][1000 genomes]
rs7593050	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597388	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601526	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs7606491	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs870722	1.00[CHB][hapmap]
rs9309478	0.91[CEU][hapmap];0.81[EUR][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	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3401435	chr2:74241007-74241362	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74230400-74246800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:74230600-74248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:74231200-74246600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:74231600-74273800	Weak transcription	A549	lung
5	chr2:74233000-74247000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:74233400-74248600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:74234800-74247600	Weak transcription	HSMM	muscle
8	chr2:74235000-74258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:74235000-74259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:74236000-74246000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:74236200-74251200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:74236400-74251400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:74236400-74259400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:74236600-74246600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:74236800-74242000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:74236800-74245800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:74236800-74246800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:74236800-74247600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:74237000-74241400	Weak transcription	Fetal Intestine Large	intestine
20	chr2:74237000-74246000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:74237200-74243600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:74237400-74246400	Weak transcription	Fetal Brain Female	brain
23	chr2:74237400-74246800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:74237400-74247000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:74237400-74247600	Weak transcription	HSMMtube	muscle
26	chr2:74237400-74247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:74237400-74252800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:74237400-74259000	Weak transcription	NHLF	lung
29	chr2:74237600-74241400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:74237600-74241800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:74237600-74242000	Weak transcription	Lung	lung
32	chr2:74237600-74246400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:74237600-74246400	Weak transcription	Spleen	Spleen
34	chr2:74237600-74246400	Weak transcription	Dnd41	blood
35	chr2:74237600-74246600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:74237600-74246600	Weak transcription	Gastric	stomach
37	chr2:74237600-74246600	Weak transcription	Psoas Muscle	Psoas
38	chr2:74237600-74246800	Weak transcription	Pancreas	Pancrea
39	chr2:74237600-74247400	Weak transcription	Fetal Thymus	thymus
40	chr2:74237600-74247600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:74237600-74247800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:74237600-74248400	Weak transcription	Stomach Mucosa	stomach
43	chr2:74237600-74251400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:74237600-74251600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:74237600-74252800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:74237800-74241400	Weak transcription	Fetal Intestine Small	intestine
47	chr2:74237800-74244200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:74237800-74246200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:74237800-74246200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:74237800-74246200	Weak transcription	Left Ventricle	heart

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