Variant report

Variant	rs607887
Chromosome Location	chr11:68196961-68196962
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	chr11:68188525..68191371-chr11:68196102..68200184,3	K562	blood:
2	chr11:68194684..68197011-chr11:68198113..68201482,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10501398	0.84[MEX][hapmap]
rs10896348	0.83[ASW][hapmap]
rs11822059	0.84[ASW][hapmap];0.84[MEX][hapmap]
rs12281742	0.83[ASW][hapmap]
rs1784235	0.86[CHB][hapmap]
rs1785493	0.82[EUR][1000 genomes]
rs23691	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2472415	0.93[CHB][hapmap]
rs2513277	0.83[ASW][hapmap]
rs2840367	0.84[MEX][hapmap]
rs314750	0.85[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs314751	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3736228	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs3740628	0.84[MEX][hapmap]
rs3853616	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs471966	0.89[EUR][1000 genomes]
rs497261	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs525592	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs531163	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs546803	0.93[CHB][hapmap];0.82[CHD][hapmap]
rs554734	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs556442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs576118	0.93[CHB][hapmap]
rs583545	0.93[CHB][hapmap]
rs599083	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs599301	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603129	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs608343	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs624003	0.84[MEX][hapmap]
rs630225	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs638076	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs640569	0.93[CHB][hapmap]
rs653056	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591341	0.83[ASW][hapmap]
rs667126	0.93[CHB][hapmap]
rs683978	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs689075	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7108376	0.84[ASW][hapmap];0.84[MEX][hapmap]
rs7119422	0.84[MEX][hapmap]
rs7126451	0.84[MEX][hapmap]
rs7950129	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901823	0.83[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
14	nsv468618	chr11:68171013-68231240	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv897863	chr11:68186392-68251460	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv555286	chr11:68192346-68207287	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68176000-68210400	Strong transcription	HepG2	liver
2	chr11:68178400-68197000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:68182000-68204400	Strong transcription	Stomach Smooth Muscle	stomach
4	chr11:68182800-68222200	Weak transcription	Small Intestine	intestine
5	chr11:68189600-68197000	Weak transcription	Fetal Heart	heart
6	chr11:68189800-68197800	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr11:68190400-68197000	Strong transcription	Pancreas	Pancrea
8	chr11:68191000-68197000	Strong transcription	Left Ventricle	heart
9	chr11:68191400-68197400	Strong transcription	Rectal Smooth Muscle	rectum
10	chr11:68192200-68199600	Strong transcription	Hela-S3	cervix
11	chr11:68193000-68197400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:68193400-68197600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:68193600-68197400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr11:68193600-68197400	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr11:68194200-68197200	Strong transcription	Fetal Kidney	kidney
16	chr11:68194200-68197600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr11:68194200-68197800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:68194400-68197400	ZNF genes & repeats	Dnd41	blood
19	chr11:68194400-68197800	ZNF genes & repeats	Fetal Stomach	stomach
20	chr11:68195400-68198800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:68195600-68197400	ZNF genes & repeats	NHEK	skin
22	chr11:68195600-68197600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:68195600-68197600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr11:68195600-68197600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:68195600-68197600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
26	chr11:68195600-68198200	ZNF genes & repeats	A549	lung
27	chr11:68195600-68198400	ZNF genes & repeats	GM12878-XiMat	blood
28	chr11:68195800-68197400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:68195800-68197400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr11:68195800-68197400	ZNF genes & repeats	Spleen	Spleen
31	chr11:68195800-68197600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:68195800-68197600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:68195800-68197800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:68196000-68197400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr11:68196000-68197400	ZNF genes & repeats	Thymus	Thymus
36	chr11:68196000-68197600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr11:68196000-68197600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:68196000-68197600	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr11:68196000-68197600	ZNF genes & repeats	Fetal Brain Female	brain
40	chr11:68196000-68197600	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr11:68196200-68197600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr11:68196200-68197600	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr11:68196400-68197600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:68196600-68197200	ZNF genes & repeats	Right Atrium	heart
45	chr11:68196600-68197400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:68196600-68197400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:68196600-68197400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr11:68196600-68197400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr11:68196600-68197400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:68196600-68197400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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