Variant report

Variant	rs13234635
Chromosome Location	chr7:70256353-70256354
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70255328..70258832-chr7:70260648..70264116,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12698938	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2049635	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62456836	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv533212	chr7:70220687-70511129	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1022759	chr7:70236919-70292317	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv888341	chr7:70249358-70316365	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv429772	chr7:70250125-70357061	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv607437	chr7:70251651-70568354	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70222000-70258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:70228400-70257400	Weak transcription	Right Atrium	heart
3	chr7:70229400-70259600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr7:70229400-70259600	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr7:70230200-70257400	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr7:70234600-70259600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:70235200-70258200	Strong transcription	HSMMtube	muscle
8	chr7:70236400-70257000	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:70236800-70258200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:70238600-70259600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:70238800-70259600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:70239200-70259400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr7:70239800-70259400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:70240200-70257000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:70240200-70258000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:70240800-70259200	Strong transcription	Fetal Intestine Small	intestine
17	chr7:70241000-70259200	Strong transcription	Aorta	Aorta
18	chr7:70241200-70257200	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:70241400-70256400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr7:70241400-70257400	Strong transcription	HSMM	muscle
21	chr7:70241800-70257200	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr7:70241800-70259400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr7:70242000-70257200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:70242200-70259600	Strong transcription	Dnd41	blood
25	chr7:70242200-70259600	Weak transcription	NHDF-Ad	bronchial
26	chr7:70243200-70259600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:70243600-70259600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:70243800-70258200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:70243800-70258200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:70244200-70256400	Strong transcription	Ovary	ovary
31	chr7:70244800-70259200	Strong transcription	GM12878-XiMat	blood
32	chr7:70245400-70256800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:70245400-70258600	Strong transcription	Fetal Thymus	thymus
34	chr7:70246200-70257200	Strong transcription	Thymus	Thymus
35	chr7:70246200-70258400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:70246400-70257400	Strong transcription	Esophagus	oesophagus
37	chr7:70246400-70258200	Strong transcription	Fetal Lung	lung
38	chr7:70246400-70259200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:70246600-70257000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:70246600-70258200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:70247000-70259400	Strong transcription	Liver	Liver
42	chr7:70247600-70256600	Weak transcription	HepG2	liver
43	chr7:70247600-70259400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:70247800-70256800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:70248200-70257400	Strong transcription	Fetal Muscle Leg	muscle
46	chr7:70248200-70258800	Strong transcription	Fetal Brain Female	brain
47	chr7:70248200-70260200	Strong transcription	Fetal Stomach	stomach
48	chr7:70248600-70257200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr7:70248600-70260400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:70248800-70256400	Strong transcription	Brain Anterior Caudate	brain

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