Variant report

Variant	rs34031156
Chromosome Location	chr7:99677917-99677918
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99677731-99678180	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:99677700-99679758	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr7:99677701-99678413	K562	blood:	n/a	n/a
4	RAD21	chr7:99677612-99680025	SK-N-SH	brain:	n/a	chr7:99679559-99679573 chr7:99679555-99679574 chr7:99679115-99679125 chr7:99679557-99679569
5	POLR2A	chr7:99676279-99678089	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:99677580-99679844	SK-N-MC	brain:	n/a	n/a
7	MXI1	chr7:99676664-99679993	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr7:99677906-99677925	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:99677706-99678094	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99611430..99615857-chr7:99675156..99681193,15	K562	blood:
2	chr7:99677846..99681399-chr7:100025174..100029012,4	K562	blood:
3	chr7:99576524..99578899-chr7:99677600..99679193,2	K562	blood:
4	chr7:99677781..99680960-chr7:99753334..99755747,3	K562	blood:
5	chr7:99515767..99517509-chr7:99677745..99680762,3	K562	blood:
6	chr7:99034954..99037975-chr7:99677842..99679932,3	K562	blood:
7	chr7:99612275..99615910-chr7:99677885..99681193,8	K562	blood:
8	chr7:99668310..99676246-chr7:99677185..99681836,16	MCF-7	breast:
9	chr7:99676617..99678184-chr7:99678757..99681254,2	MCF-7	breast:
10	chr7:99095910..99098991-chr7:99677831..99680952,3	K562	blood:
11	chr7:99677604..99679757-chr7:100032184..100034035,2	K562	blood:
12	chr7:99515562..99518077-chr7:99677870..99680297,2	MCF-7	breast:
13	chr7:99645911..99648901-chr7:99677073..99680526,5	MCF-7	breast:
14	chr7:99034954..99037866-chr7:99677567..99679393,3	K562	blood:
15	chr7:99677060..99680949-chr7:100024846..100027547,5	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF3	TF binding region
ENSG00000266154	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000160908	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000214313	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000166529	Chromatin interaction
ENSG00000146826	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10228764	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10281368	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1060544	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705070	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12705071	0.96[EUR][1000 genomes]
rs13223792	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13232115	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534310	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2070215	0.95[EUR][1000 genomes]
rs2293479	0.85[EUR][1000 genomes]
rs4134903	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4424195	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729576	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59261051	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465761	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6465762	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6950205	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6953441	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6974305	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34031156	TAF6	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99666400-99678000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:99673400-99678200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:99674800-99678600	Weak transcription	Aorta	Aorta
4	chr7:99675200-99678600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:99676400-99678000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:99676400-99678400	Enhancers	Fetal Heart	heart
7	chr7:99676600-99678000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr7:99676600-99678000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:99676600-99678000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
10	chr7:99676600-99678000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
11	chr7:99676600-99678400	Enhancers	Fetal Brain Male	brain
12	chr7:99676600-99678400	Enhancers	Right Atrium	heart
13	chr7:99676800-99678000	Genic enhancers	Fetal Muscle Leg	muscle
14	chr7:99676800-99678200	Genic enhancers	Fetal Stomach	stomach
15	chr7:99676800-99678200	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr7:99676800-99678400	Enhancers	Brain Anterior Caudate	brain
17	chr7:99677000-99678000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:99677000-99678000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:99677000-99678000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr7:99677000-99678000	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr7:99677000-99678000	Genic enhancers	Fetal Thymus	thymus
22	chr7:99677000-99678000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
23	chr7:99677000-99678000	Enhancers	Small Intestine	intestine
24	chr7:99677000-99678000	Genic enhancers	K562	blood
25	chr7:99677000-99678000	Genic enhancers	NHEK	skin
26	chr7:99677000-99678200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:99677000-99678200	Genic enhancers	Primary hematopoietic stem cells	blood
28	chr7:99677000-99678200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:99677000-99678400	Flanking Active TSS	Colonic Mucosa	Colon
30	chr7:99677000-99678400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
31	chr7:99677000-99678600	Enhancers	Stomach Mucosa	stomach
32	chr7:99677200-99678000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:99677200-99678000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:99677200-99678000	Weak transcription	Primary B cells from cord blood	blood
35	chr7:99677200-99678200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:99677200-99678200	Enhancers	Gastric	stomach
37	chr7:99677200-99678200	Enhancers	Pancreas	Pancrea
38	chr7:99677200-99678400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr7:99677400-99678000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
40	chr7:99677400-99678000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:99677400-99678000	Active TSS	GM12878-XiMat	blood
42	chr7:99677400-99678200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:99677400-99678200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:99677400-99678200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:99677400-99678200	Enhancers	Placenta	Placenta
46	chr7:99677400-99678200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:99677400-99678400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:99677400-99678400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:99677400-99678600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:99677400-99678600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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