Variant report

Variant	rs7928312
Chromosome Location	chr11:66605946-66605947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66605714-66606128	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:66605228-66606128	K562	blood:	n/a	n/a
3	POLR2A	chr11:66605419-66606060	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:66605857-66606181	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:66605801-66606045	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:66605200-66606059	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:66605400-66606089	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:66605401-66606060	K562	blood:	n/a	n/a
9	POLR2A	chr11:66605292-66606201	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:66605346-66606200	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:66605805-66606194	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr11:66605355-66606031	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:66605019-66606311	PFSK-1	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66457750..66467271-chr11:66598332..66608447,16	K562	blood:
2	chr11:66604228..66607153-chr11:66743611..66745404,2	MCF-7	breast:
3	chr11:66451719..66455399-chr11:66605601..66609017,3	MCF-7	breast:
4	chr11:66460513..66462118-chr11:66605906..66607499,2	K562	blood:
5	chr11:66441820..66446912-chr11:66604351..66608037,4	MCF-7	breast:

No data

Variant related genes	Relation type
RCE1	TF binding region
ENSG00000173914	Chromatin interaction
ENSG00000173898	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11820790	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs11820976	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11828633	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7123341	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66513400-66606800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:66544000-66609600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:66556800-66607400	Weak transcription	Fetal Lung	lung
4	chr11:66561600-66609400	Weak transcription	Colonic Mucosa	Colon
5	chr11:66567000-66606800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:66567000-66609800	Weak transcription	Ovary	ovary
7	chr11:66568000-66609400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:66568800-66609600	Weak transcription	Fetal Kidney	kidney
9	chr11:66570000-66606800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:66571000-66609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:66571600-66609600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:66572000-66606600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:66572000-66609200	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:66576000-66609600	Weak transcription	Esophagus	oesophagus
15	chr11:66576000-66609800	Weak transcription	Aorta	Aorta
16	chr11:66577000-66609400	Weak transcription	Small Intestine	intestine
17	chr11:66580600-66606600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:66580800-66609600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:66581200-66609800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:66583400-66609200	Weak transcription	NH-A	brain
21	chr11:66585200-66609000	Weak transcription	HepG2	liver
22	chr11:66586800-66606600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:66590600-66609200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:66591600-66606400	Weak transcription	GM12878-XiMat	blood
25	chr11:66594000-66609000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:66596000-66607800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:66596200-66609600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:66596600-66606600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:66597000-66609600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:66597600-66608000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:66598600-66609600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:66599200-66609600	Weak transcription	Fetal Brain Male	brain
33	chr11:66601200-66606600	Weak transcription	HMEC	breast
34	chr11:66601800-66606800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:66602000-66609400	Weak transcription	Left Ventricle	heart
36	chr11:66602400-66609200	Weak transcription	HUVEC	blood vessel
37	chr11:66603400-66607200	Weak transcription	NHDF-Ad	bronchial
38	chr11:66603600-66609000	Weak transcription	Hela-S3	cervix
39	chr11:66603800-66607000	Weak transcription	Osteobl	bone
40	chr11:66603800-66608200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:66603800-66609200	Weak transcription	Adipose Nuclei	Adipose
42	chr11:66604000-66607800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:66604000-66608200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:66604000-66608800	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:66604000-66609400	Weak transcription	Right Ventricle	heart
46	chr11:66604200-66609200	Strong transcription	Fetal Intestine Small	intestine
47	chr11:66604200-66609600	Weak transcription	Brain Substantia Nigra	brain
48	chr11:66604400-66608200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:66604600-66609200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:66604800-66608000	Strong transcription	Placenta	Placenta

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