Variant report

Variant	rs35244862
Chromosome Location	chr7:66312374-66312375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr7:66312135-66313070	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:66308321-66312999	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:66312070-66312582	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:66312282-66312424	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr7:66312334-66312487	MCF-7	breast:	n/a	n/a
6	POLR2A	chr7:66308488-66312871	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:66311624-66313000	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr7:66312071-66312908	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr7:66312312-66312746	H1-hESC	embryonic stem cell:	n/a	n/a
10	SRF	chr7:66312361-66312784	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:66312149-66312722	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:66312365-66312374	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:66312365-66312476	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:66312317-66312808	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:66312343-66312564	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:66312353-66312466	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66310807..66313244-chr7:66448820..66450934,2	MCF-7	breast:
2	chr7:66308221..66311838-chr7:66312285..66316374,5	K562	blood:
3	chr7:66312126..66314998-chr7:66385416..66387725,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD7-2	chr7:66312341-66312549	NONHSAT121232
2	lnc-KCTD7-2	chr7:66312244-66312549	NONHSAT121233

No data

Variant related genes	Relation type
ENSG00000232546	TF binding region
GTF2IRD1P1	TF binding region
ENSG00000106609	Chromatin interaction
ENSG00000230583	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10950054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10950055	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11762354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11766583	0.83[AFR][1000 genomes]
rs12668022	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12673366	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17747939	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17748121	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17748198	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2901267	0.84[ASN][1000 genomes]
rs3735155	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3800815	0.87[ASN][1000 genomes]
rs3823610	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4717322	0.89[ASN][1000 genomes]
rs4718410	0.89[ASN][1000 genomes]
rs4718429	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6960230	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6970767	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6974046	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6979167	0.84[ASN][1000 genomes]
rs73139927	0.84[ASN][1000 genomes]
rs73139974	0.89[ASN][1000 genomes]
rs73377594	0.84[ASN][1000 genomes]

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	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66310400-66337000	Weak transcription	Small Intestine	intestine
2	chr7:66310600-66313000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:66310600-66329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:66310800-66312800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:66310800-66312800	Weak transcription	Primary B cells from cord blood	blood
6	chr7:66310800-66312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:66310800-66313200	Weak transcription	NH-A	brain
8	chr7:66310800-66314600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:66310800-66324800	Weak transcription	Brain Substantia Nigra	brain
10	chr7:66310800-66331600	Weak transcription	Ovary	ovary
11	chr7:66311000-66312800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:66311000-66313000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:66311000-66313000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:66311000-66313000	Weak transcription	Osteobl	bone
15	chr7:66311000-66313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:66311000-66313200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:66311000-66313200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:66311000-66313400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:66311000-66313400	Weak transcription	A549	lung
20	chr7:66311000-66313800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:66311000-66314000	Weak transcription	Fetal Intestine Small	intestine
22	chr7:66311000-66322400	Weak transcription	Placenta	Placenta
23	chr7:66311000-66323400	Weak transcription	Lung	lung
24	chr7:66311000-66323600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:66311000-66323600	Weak transcription	Primary T cells from cord blood	blood
26	chr7:66311000-66324200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:66311000-66324400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:66311000-66324600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:66311000-66324600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:66311000-66324600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:66311000-66324600	Weak transcription	Left Ventricle	heart
32	chr7:66311000-66324600	Weak transcription	Psoas Muscle	Psoas
33	chr7:66311000-66324800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:66311000-66324800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:66311000-66324800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:66311000-66325200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:66311000-66329000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:66311000-66332600	Weak transcription	Colonic Mucosa	Colon
39	chr7:66311000-66339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:66311000-66345800	Weak transcription	HSMMtube	muscle
41	chr7:66311000-66349400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:66311000-66358400	Weak transcription	Brain Anterior Caudate	brain
43	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:66311200-66312800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:66311200-66313000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:66311200-66313000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:66311200-66313000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:66311200-66313000	Weak transcription	HMEC	breast
50	chr7:66311200-66313200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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