Variant report

Variant	rs697598
Chromosome Location	chr7:137276293-137276294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:135485497..135486705-chr7:137276035..137277662,8	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs706564	1.00[AFR][1000 genomes]
rs834097	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs834098	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases
3	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137237400-137277800	Weak transcription	Aorta	Aorta
2	chr7:137270200-137291400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:137271400-137286600	Weak transcription	Brain Germinal Matrix	brain
4	chr7:137274000-137277000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:137274000-137277200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:137274000-137277800	Enhancers	Fetal Heart	heart
7	chr7:137274200-137276800	Enhancers	Stomach Smooth Muscle	stomach
8	chr7:137274200-137277200	Enhancers	Fetal Stomach	stomach
9	chr7:137274200-137277600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:137274400-137276400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:137274400-137277000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:137274400-137277200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:137274400-137277400	Enhancers	HSMM	muscle
14	chr7:137274400-137277600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:137274400-137277800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:137274800-137276400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:137274800-137276600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:137274800-137276800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr7:137274800-137276800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:137274800-137277000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:137274800-137277000	Enhancers	HSMMtube	muscle
22	chr7:137275000-137276400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:137275000-137276400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:137275000-137277000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:137275000-137277000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:137275000-137277400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:137275200-137276400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:137275400-137276400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:137275400-137276600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:137275400-137277000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:137275400-137277400	Enhancers	Brain Angular Gyrus	brain
32	chr7:137275600-137278200	Enhancers	Fetal Brain Male	brain
33	chr7:137275800-137276400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr7:137275800-137276600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:137275800-137277200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:137275800-137277200	Enhancers	HUVEC	blood vessel
37	chr7:137275800-137277200	Enhancers	NHLF	lung
38	chr7:137275800-137277600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:137275800-137277800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:137276000-137276400	Flanking Active TSS	NH-A	brain
41	chr7:137276000-137276600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:137276000-137277000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:137276000-137277200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:137276000-137277200	Enhancers	HMEC	breast
45	chr7:137276000-137277200	Enhancers	NHEK	skin
46	chr7:137276000-137277200	Enhancers	Osteobl	bone
47	chr7:137276000-137277400	Enhancers	Brain Anterior Caudate	brain
48	chr7:137276000-137277800	Enhancers	Brain Cingulate Gyrus	brain
49	chr7:137276200-137276400	Enhancers	Placenta	Placenta
50	chr7:137276200-137276400	Enhancers	Sigmoid Colon	Sigmoid Colon

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