Variant report

Variant	rs6963198
Chromosome Location	chr7:33058331-33058332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33056372..33058443-chr7:33066000..33068603,2	K562	blood:

Variant related genes	Relation type
ENSG00000122643	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12113707	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12668520	0.86[ASN][1000 genomes]
rs12672785	0.82[AFR][1000 genomes]
rs16881927	0.93[ASN][1000 genomes]
rs16881929	0.93[ASN][1000 genomes]
rs2953608	0.87[ASN][1000 genomes]
rs67595817	0.84[AFR][1000 genomes]
rs67608094	0.88[AFR][1000 genomes]
rs6946062	0.84[AFR][1000 genomes]
rs6965006	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6976843	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7786711	0.94[ASN][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	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33003800-33064200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:33012600-33077600	Weak transcription	Psoas Muscle	Psoas
3	chr7:33024000-33064400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:33038200-33080800	Weak transcription	Fetal Brain Male	brain
5	chr7:33039200-33065000	Weak transcription	Brain Germinal Matrix	brain
6	chr7:33042600-33083200	Weak transcription	Small Intestine	intestine
7	chr7:33045200-33066800	Weak transcription	HSMMtube	muscle
8	chr7:33046200-33062000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:33049600-33064600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:33049600-33067000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:33050400-33060600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:33050400-33063200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:33051000-33065800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:33051200-33064000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:33051200-33064200	Strong transcription	GM12878-XiMat	blood
16	chr7:33051200-33064400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:33051200-33065600	Strong transcription	Dnd41	blood
18	chr7:33051200-33067000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:33051200-33068400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:33051200-33070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:33051400-33066000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:33051400-33067600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:33051800-33066800	Strong transcription	Fetal Intestine Large	intestine
24	chr7:33051800-33067200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:33051800-33069400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:33052000-33058800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:33052000-33062600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:33052000-33067000	Strong transcription	Liver	Liver
29	chr7:33052000-33067400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:33052200-33066800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr7:33052400-33066200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:33052400-33067200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:33052400-33078200	Weak transcription	Fetal Heart	heart
34	chr7:33052600-33064400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:33052800-33062200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:33053400-33060400	Weak transcription	Stomach Mucosa	stomach
37	chr7:33053400-33063800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:33053400-33065400	Weak transcription	Colonic Mucosa	Colon
39	chr7:33053400-33065600	Weak transcription	Lung	lung
40	chr7:33053400-33068200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:33053400-33068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:33053400-33072400	Weak transcription	NHLF	lung
43	chr7:33053400-33073800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:33053400-33074400	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:33053400-33077600	Weak transcription	Brain Substantia Nigra	brain
46	chr7:33053600-33059800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:33053800-33077400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:33054400-33061000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:33054600-33059000	Strong transcription	Fetal Intestine Small	intestine
50	chr7:33055000-33060000	Weak transcription	NHDF-Ad	bronchial

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