Variant report

Variant	rs6944703
Chromosome Location	chr7:66311775-66311776
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:66308321-66312999	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:66311733-66311921	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:66308488-66312871	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:66311624-66313000	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF1	chr7:66311597-66311973	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66310072..66311941-chr7:66328440..66331303,2	MCF-7	breast:
2	chr7:66308221..66311838-chr7:66312285..66316374,5	K562	blood:
3	chr7:66305123..66307515-chr7:66310267..66312023,2	K562	blood:
4	chr7:66310160..66312004-chr7:66384558..66386513,2	K562	blood:
5	chr7:66309053..66311838-chr7:66313170..66315306,3	K562	blood:
6	chr7:66310807..66313244-chr7:66448820..66450934,2	MCF-7	breast:

No data

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

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

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

rs_ID	r²[population]
rs2533284	1.00[ASW][hapmap]
rs4718385	1.00[ASW][hapmap]
rs6974046	1.00[ASW][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	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	chr7:66310600-66311800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:66310600-66313000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:66310600-66329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:66310800-66311800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:66310800-66312000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:66310800-66312200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:66310800-66312800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:66310800-66312800	Weak transcription	Primary B cells from cord blood	blood
10	chr7:66310800-66312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:66310800-66313200	Weak transcription	NH-A	brain
12	chr7:66310800-66314600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:66310800-66324800	Weak transcription	Brain Substantia Nigra	brain
14	chr7:66310800-66331600	Weak transcription	Ovary	ovary
15	chr7:66311000-66312200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:66311000-66312200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:66311000-66312200	Weak transcription	HUVEC	blood vessel
18	chr7:66311000-66312200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:66311000-66312800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:66311000-66313000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:66311000-66313000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:66311000-66313000	Weak transcription	Osteobl	bone
23	chr7:66311000-66313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:66311000-66313200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:66311000-66313200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:66311000-66313400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:66311000-66313400	Weak transcription	A549	lung
28	chr7:66311000-66313800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:66311000-66314000	Weak transcription	Fetal Intestine Small	intestine
30	chr7:66311000-66322400	Weak transcription	Placenta	Placenta
31	chr7:66311000-66323400	Weak transcription	Lung	lung
32	chr7:66311000-66323600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:66311000-66323600	Weak transcription	Primary T cells from cord blood	blood
34	chr7:66311000-66324200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:66311000-66324400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:66311000-66324600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:66311000-66324600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:66311000-66324600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:66311000-66324600	Weak transcription	Left Ventricle	heart
40	chr7:66311000-66324600	Weak transcription	Psoas Muscle	Psoas
41	chr7:66311000-66324800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:66311000-66324800	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:66311000-66324800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:66311000-66325200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:66311000-66329000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:66311000-66332600	Weak transcription	Colonic Mucosa	Colon
47	chr7:66311000-66339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:66311000-66345800	Weak transcription	HSMMtube	muscle
49	chr7:66311000-66349400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:66311000-66358400	Weak transcription	Brain Anterior Caudate	brain

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