Variant report

Variant	rs996076
Chromosome Location	chr11:35210798-35210799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:35203667-35220130	U87	brain:	n/a	n/a
2	POLR2A	chr11:35210530-35212721	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:35209090-35216353	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:35210443-35214788	U87	brain:	n/a	n/a
5	POLR2A	chr11:35203674-35221500	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:35210284-35211938	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:35210536-35215043	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:35210443-35214758	U87	brain:	n/a	n/a
9	POLR2A	chr11:35210367-35217410	U87	brain:	n/a	n/a

Variant related genes	Relation type
CD44	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7930724	0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs7934770	0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	esv3693078	chr11:35179651-35217745	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs996076	HIPK3	cis	parietal	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35189400-35213800	Weak transcription	Right Ventricle	heart
2	chr11:35189400-35218800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:35195000-35211200	Weak transcription	Gastric	stomach
4	chr11:35195800-35213600	Weak transcription	Liver	Liver
5	chr11:35196000-35212200	Weak transcription	Fetal Intestine Small	intestine
6	chr11:35197000-35211600	Weak transcription	HUVEC	blood vessel
7	chr11:35198000-35223600	Strong transcription	Dnd41	blood
8	chr11:35198000-35232800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:35198200-35219800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr11:35198400-35213000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:35199400-35211600	Weak transcription	Fetal Intestine Large	intestine
12	chr11:35200000-35211200	Weak transcription	Placenta	Placenta
13	chr11:35200600-35244800	Weak transcription	Fetal Brain Male	brain
14	chr11:35200800-35213800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:35200800-35230000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr11:35200800-35230400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:35201000-35229600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:35201200-35213400	Weak transcription	Stomach Mucosa	stomach
19	chr11:35201400-35211200	Weak transcription	Small Intestine	intestine
20	chr11:35202000-35212400	Weak transcription	Left Ventricle	heart
21	chr11:35202000-35213800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:35202200-35211400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:35202200-35217200	Strong transcription	Hela-S3	cervix
24	chr11:35202200-35228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:35202600-35213000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:35202600-35213800	Strong transcription	Fetal Muscle Leg	muscle
27	chr11:35202600-35214000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:35202600-35234000	Strong transcription	HMEC	breast
29	chr11:35202600-35234000	Strong transcription	HSMM	muscle
30	chr11:35202600-35234800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:35203000-35211400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:35203000-35218000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:35203000-35231400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr11:35203000-35231400	Strong transcription	NH-A	brain
35	chr11:35203600-35214400	Strong transcription	A549	lung
36	chr11:35204200-35227000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:35204200-35227200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:35204400-35211400	Weak transcription	Fetal Lung	lung
39	chr11:35204600-35211200	Weak transcription	Colonic Mucosa	Colon
40	chr11:35204600-35212400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:35204600-35235200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:35205200-35230600	Strong transcription	Primary B cells from cord blood	blood
43	chr11:35205600-35216200	Genic enhancers	NHLF	lung
44	chr11:35205800-35212000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:35205800-35214400	Weak transcription	Brain Substantia Nigra	brain
46	chr11:35205800-35231400	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:35206000-35211000	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:35206000-35219800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:35207000-35214200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:35207200-35211600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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