Variant report

Variant	rs7041792
Chromosome Location	chr9:71589237-71589238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71587881..71589909-chr9:71610346..71613287,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10114061	0.84[ASN][1000 genomes]
rs10114872	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10115104	0.84[ASN][1000 genomes]
rs10115155	0.91[ASN][1000 genomes]
rs10115608	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10117043	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10117188	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10117198	0.86[CEU][hapmap]
rs10122975	0.82[ASN][1000 genomes]
rs10124169	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10746973	0.86[CEU][hapmap]
rs10746974	0.93[CEU][hapmap]
rs10746979	0.96[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10781283	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10781293	0.82[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10869541	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10869543	0.81[ASN][1000 genomes]
rs10869572	0.84[ASN][1000 genomes]
rs10869574	0.84[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10869578	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10869599	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10869607	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10869610	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10869623	0.86[EUR][1000 genomes]
rs11144468	0.83[EUR][1000 genomes]
rs11144474	0.84[EUR][1000 genomes]
rs11144476	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11144496	0.84[EUR][1000 genomes]
rs11144510	0.81[EUR][1000 genomes]
rs12337140	0.88[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12349586	0.84[EUR][1000 genomes]
rs13300006	0.94[ASN][1000 genomes]
rs2027205	0.91[JPT][hapmap]
rs2152649	0.91[JPT][hapmap]
rs2309384	0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4375069	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4745402	0.87[JPT][hapmap]
rs62569165	0.81[EUR][1000 genomes]
rs6560444	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs6560467	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020192	0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7021212	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7037010	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs756326	0.84[ASN][1000 genomes]
rs7853501	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7867240	0.91[JPT][hapmap]
rs7873239	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv614549	chr9:71506459-71659280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
19	esv1833433	chr9:71544920-71598165	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv466397	chr9:71574757-71843023	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv614550	chr9:71574757-71843023	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv1050692	chr9:71578494-71843023	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71571200-71589400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:71575400-71590600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:71580000-71594000	Weak transcription	Fetal Stomach	stomach
4	chr9:71580000-71594200	Weak transcription	Fetal Intestine Large	intestine
5	chr9:71580400-71594400	Weak transcription	Pancreas	Pancrea
6	chr9:71580600-71590400	Weak transcription	Stomach Mucosa	stomach
7	chr9:71582800-71590400	Weak transcription	Small Intestine	intestine
8	chr9:71585800-71594800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr9:71586000-71589400	Weak transcription	Brain Germinal Matrix	brain
10	chr9:71586000-71590200	Weak transcription	Primary B cells from cord blood	blood
11	chr9:71587800-71589400	Enhancers	Fetal Heart	heart
12	chr9:71587800-71590200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr9:71588000-71590600	Active TSS	Left Ventricle	heart
14	chr9:71588000-71590800	Active TSS	Right Atrium	heart
15	chr9:71588000-71592800	Strong transcription	Fetal Intestine Small	intestine
16	chr9:71588600-71589800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:71588600-71590200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:71588600-71590600	Enhancers	Colonic Mucosa	Colon
19	chr9:71588600-71590800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr9:71588600-71590800	Active TSS	Right Ventricle	heart
21	chr9:71588600-71591400	Enhancers	K562	blood
22	chr9:71588800-71590000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:71588800-71590200	Active TSS	Colon Smooth Muscle	Colon
24	chr9:71588800-71590400	Active TSS	Rectal Smooth Muscle	rectum
25	chr9:71588800-71590800	Active TSS	Adipose Nuclei	Adipose
26	chr9:71588800-71591400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:71588800-71594600	Weak transcription	HepG2	liver
28	chr9:71589000-71589800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:71589000-71590000	Flanking Active TSS	GM12878-XiMat	blood
30	chr9:71589000-71590800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr9:71589000-71590800	Active TSS	Lung	lung
32	chr9:71589000-71590800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr9:71589000-71596800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:71589200-71589400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr9:71589200-71589600	Active TSS	Stomach Smooth Muscle	stomach
36	chr9:71589200-71590000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr9:71589200-71590000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr9:71589200-71590200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr9:71589200-71590800	Active TSS	Brain Anterior Caudate	brain
40	chr9:71589200-71591000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr9:71589200-71593800	Enhancers	Primary B cells from peripheral blood	blood

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