Variant report

Variant	rs1001715
Chromosome Location	chr11:36130972-36130973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr11:36130528-36131643	K562	blood:	n/a	n/a
2	BHLHE40	chr11:36130924-36131279	K562	blood:	n/a	n/a
3	GATA1	chr11:36130271-36131601	PBDE	blood:	n/a	n/a
4	MYC	chr11:36130417-36131046	K562	blood:	n/a	n/a
5	RCOR1	chr11:36130126-36131225	K562	blood:	n/a	n/a
6	POLR2A	chr11:36130716-36131028	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:36130881-36131036	H1-hESC	embryonic stem cell:	n/a	n/a
8	GTF2F1	chr11:36130794-36130978	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:36130834-36131271	H1-neurons	neurons:	n/a	n/a
10	HMGN3	chr11:36130857-36131177	K562	blood:	n/a	n/a
11	CHD2	chr11:36130883-36132271	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:36130541-36133074	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr11:36130416-36131093	K562	blood:	n/a	n/a
14	POLR2A	chr11:36129893-36131929	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36110744..36113675-chr11:36128457..36130983,3	K562	blood:
2	chr11:36087632..36090682-chr11:36127841..36131413,3	K562	blood:

No data

Variant related genes	Relation type
LDLRAD3	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10082659	0.84[CHB][hapmap]
rs10836493	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10836494	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11033433	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11033442	1.00[LWK][hapmap]
rs11033501	1.00[LWK][hapmap]
rs11551023	1.00[LWK][hapmap]
rs11602141	1.00[LWK][hapmap]
rs11603810	1.00[LWK][hapmap]
rs12225134	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12225145	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12276510	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs12421199	1.00[LWK][hapmap]
rs12576603	1.00[LWK][hapmap]
rs7113652	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7117426	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7122831	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs872534	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36100600-36139600	Weak transcription	HMEC	breast
2	chr11:36113600-36134200	Weak transcription	Fetal Kidney	kidney
3	chr11:36115800-36145600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:36118800-36134400	Weak transcription	A549	lung
5	chr11:36119200-36144400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:36120200-36145000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:36122400-36134400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:36123000-36135600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:36123200-36134200	Weak transcription	Esophagus	oesophagus
10	chr11:36123200-36136200	Weak transcription	Hela-S3	cervix
11	chr11:36123400-36137000	Weak transcription	Gastric	stomach
12	chr11:36123400-36144200	Weak transcription	NHEK	skin
13	chr11:36124000-36131800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:36124400-36135000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:36126200-36132200	Strong transcription	Fetal Stomach	stomach
16	chr11:36126400-36134600	Weak transcription	Fetal Intestine Large	intestine
17	chr11:36126600-36134400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:36127000-36134800	Weak transcription	Ovary	ovary
19	chr11:36127000-36140600	Weak transcription	Pancreas	Pancrea
20	chr11:36127200-36131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:36127200-36134200	Weak transcription	Adipose Nuclei	Adipose
22	chr11:36127400-36132600	Weak transcription	HUVEC	blood vessel
23	chr11:36127400-36135400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:36127800-36131600	Weak transcription	Fetal Lung	lung
25	chr11:36127800-36133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:36127800-36134800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:36128000-36132000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:36128000-36134200	Weak transcription	Right Atrium	heart
29	chr11:36128200-36131600	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:36128200-36132000	Weak transcription	Brain Angular Gyrus	brain
31	chr11:36128200-36132000	Weak transcription	Brain Substantia Nigra	brain
32	chr11:36128200-36134000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:36128400-36133800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:36128600-36131800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:36128600-36131800	Weak transcription	HSMMtube	muscle
36	chr11:36128600-36132000	Weak transcription	Fetal Intestine Small	intestine
37	chr11:36128600-36133800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:36128600-36133800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:36128600-36134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:36128600-36136200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:36128800-36135600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:36129600-36131600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:36129600-36132800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:36130000-36131000	Strong transcription	HSMM	muscle
45	chr11:36130000-36131200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:36130000-36131800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr11:36130000-36131800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:36130000-36133000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:36130000-36133200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:36130000-36133200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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