Variant report

Variant	rs1977109
Chromosome Location	chr11:34368750-34368751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34368701..34370901-chr11:34379752..34381357,2	K562	blood:
2	chr11:34368537..34371450-chr11:34371767..34375088,3	K562	blood:
3	chr11:34243758..34246398-chr11:34366962..34369270,2	MCF-7	breast:
4	chr11:34351980..34355833-chr11:34364485..34369065,5	MCF-7	breast:
5	chr11:34182869..34184565-chr11:34366720..34369400,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10742313	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10742314	0.80[EUR][1000 genomes]
rs10768059	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10768060	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10768061	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10768062	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10768063	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10768064	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10768065	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10768066	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10768067	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10768068	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10768069	0.80[EUR][1000 genomes]
rs10836186	0.89[ASN][1000 genomes]
rs10836187	0.90[ASN][1000 genomes]
rs10836189	0.87[ASN][1000 genomes]
rs10836190	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10836191	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10836194	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10836195	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10836196	0.80[EUR][1000 genomes]
rs10836197	0.80[EUR][1000 genomes]
rs11032621	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11032624	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11032625	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11032627	0.80[EUR][1000 genomes]
rs11032628	0.80[EUR][1000 genomes]
rs11032631	0.80[EUR][1000 genomes]
rs11032632	0.80[EUR][1000 genomes]
rs11032634	0.80[EUR][1000 genomes]
rs11032635	0.80[EUR][1000 genomes]
rs12296013	0.80[EUR][1000 genomes]
rs1810506	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1810507	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1883736	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1925368	0.80[EUR][1000 genomes]
rs1925371	0.80[EUR][1000 genomes]
rs1925372	0.80[EUR][1000 genomes]
rs1925374	0.80[EUR][1000 genomes]
rs2001176	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2092485	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2145794	0.86[ASN][1000 genomes]
rs3740795	0.80[EUR][1000 genomes]
rs3740796	0.80[EUR][1000 genomes]
rs3817990	0.80[EUR][1000 genomes]
rs3981191	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3981192	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4140544	0.83[AMR][1000 genomes]
rs4993520	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6484710	0.80[EUR][1000 genomes]
rs6484711	0.80[EUR][1000 genomes]
rs7110380	0.80[EUR][1000 genomes]
rs7124239	0.80[EUR][1000 genomes]
rs742634	0.80[EUR][1000 genomes]
rs7929828	0.89[ASN][1000 genomes]
rs7944461	0.89[ASN][1000 genomes]
rs910088	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv897210	chr11:34349427-34381075	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34361800-34370800	Weak transcription	GM12878-XiMat	blood
2	chr11:34362600-34370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:34363000-34372400	Enhancers	Fetal Muscle Leg	muscle
4	chr11:34363600-34368800	Enhancers	NHLF	lung
5	chr11:34363800-34369000	Enhancers	Left Ventricle	heart
6	chr11:34364000-34369000	Enhancers	Fetal Muscle Trunk	muscle
7	chr11:34364200-34376600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:34364400-34371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:34365000-34369800	Enhancers	Brain Germinal Matrix	brain
10	chr11:34365400-34372200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:34365800-34368800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:34366000-34371800	Enhancers	Right Atrium	heart
13	chr11:34366200-34368800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:34366200-34369000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:34366200-34370800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:34366200-34371200	Enhancers	Fetal Stomach	stomach
17	chr11:34366400-34368800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:34366400-34374000	Enhancers	Psoas Muscle	Psoas
19	chr11:34366600-34368800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr11:34366600-34369000	Enhancers	Colon Smooth Muscle	Colon
21	chr11:34367000-34368800	Enhancers	Rectal Smooth Muscle	rectum
22	chr11:34367000-34371800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:34367000-34376200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:34367200-34375200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:34367400-34369000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:34367400-34369600	Weak transcription	Aorta	Aorta
27	chr11:34367400-34369600	Weak transcription	Fetal Kidney	kidney
28	chr11:34367400-34370400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:34367400-34376400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:34367600-34370000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:34367600-34372800	Enhancers	HepG2	liver
32	chr11:34367800-34368800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:34367800-34370000	Weak transcription	Fetal Thymus	thymus
34	chr11:34367800-34370000	Weak transcription	Right Ventricle	heart
35	chr11:34367800-34376400	Weak transcription	Pancreas	Pancrea
36	chr11:34368000-34368800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr11:34368000-34368800	Enhancers	Osteobl	bone
38	chr11:34368000-34370000	Weak transcription	Colonic Mucosa	Colon
39	chr11:34368000-34370000	Weak transcription	Lung	lung
40	chr11:34368200-34368800	Enhancers	Hela-S3	cervix
41	chr11:34368200-34370400	Weak transcription	Brain Substantia Nigra	brain
42	chr11:34368200-34370400	Weak transcription	NHDF-Ad	bronchial
43	chr11:34368200-34370600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:34368200-34373000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:34368200-34375000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:34368200-34376600	Weak transcription	Brain Angular Gyrus	brain
47	chr11:34368400-34369400	Weak transcription	Liver	Liver
48	chr11:34368400-34369400	Weak transcription	Ovary	ovary
49	chr11:34368400-34369800	Weak transcription	Small Intestine	intestine
50	chr11:34368400-34370000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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