Variant report

Variant	rs6685808
Chromosome Location	chr1:92195033-92195034
allele	C/G
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	chr1:92194683-92199275	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:92194534-92195040	HepG2	liver:	n/a	n/a
3	IRF1	chr1:92194907-92195038	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:92194536..92198402-chr1:92243329..92245903,3	K562	blood:
2	chr1:92189258..92193188-chr1:92194522..92196591,3	K562	blood:
3	chr1:92170602..92173339-chr1:92193646..92196655,3	K562	blood:

Variant related genes	Relation type
TGFBR3	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10874911	0.98[ASN][1000 genomes]
rs12076549	0.82[ASN][1000 genomes]
rs12123737	0.86[ASN][1000 genomes]
rs284876	0.82[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	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv528991	chr1:92191534-92198162	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:92165800-92196800	Weak transcription	Small Intestine	intestine
3	chr1:92171000-92196800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:92171200-92196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:92172800-92197000	Weak transcription	Colonic Mucosa	Colon
6	chr1:92173200-92202400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:92173600-92197800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:92179400-92195200	Weak transcription	GM12878-XiMat	blood
9	chr1:92184800-92195600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:92185200-92196600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:92185400-92196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:92185400-92196600	Weak transcription	A549	lung
13	chr1:92185600-92196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:92185800-92195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:92185800-92196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:92185800-92196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:92185800-92196800	Weak transcription	Pancreas	Pancrea
18	chr1:92185800-92197600	Weak transcription	Fetal Intestine Small	intestine
19	chr1:92186000-92195200	Weak transcription	Esophagus	oesophagus
20	chr1:92186000-92196800	Weak transcription	Gastric	stomach
21	chr1:92186200-92195400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:92186400-92196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:92187000-92195600	Weak transcription	Hela-S3	cervix
24	chr1:92187200-92196400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:92187200-92197000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:92189200-92202200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:92190600-92201400	Genic enhancers	NHDF-Ad	bronchial
28	chr1:92191000-92195800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:92191200-92195200	Weak transcription	Right Ventricle	heart
30	chr1:92191400-92198400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:92191800-92204000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:92192000-92195200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:92192000-92195400	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:92192000-92196400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:92192000-92196400	Strong transcription	Placenta	Placenta
36	chr1:92192000-92196800	Weak transcription	Brain Anterior Caudate	brain
37	chr1:92192200-92196400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:92192200-92196600	Weak transcription	Brain Substantia Nigra	brain
39	chr1:92192200-92196800	Weak transcription	Psoas Muscle	Psoas
40	chr1:92192200-92196800	Weak transcription	HUVEC	blood vessel
41	chr1:92192400-92195200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:92192600-92195400	Strong transcription	Liver	Liver
43	chr1:92192600-92197600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:92192600-92200600	Genic enhancers	Fetal Muscle Leg	muscle
45	chr1:92192800-92195600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:92192800-92196200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:92193000-92196000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:92193000-92196200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:92193000-92196200	Weak transcription	Osteobl	bone
50	chr1:92193000-92202400	Weak transcription	Aorta	Aorta

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