Variant report

Variant	rs6949939
Chromosome Location	chr7:26245022-26245023
allele	A/T
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	chr7:26244682-26245380	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26243874..26246408-chr7:26403177..26404813,2	MCF-7	breast:
2	chr7:26189582..26191145-chr7:26243499..26245167,2	K562	blood:
3	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:

Variant related genes	Relation type
HNRNPA2B1	TF binding region
CBX3	TF binding region
ENSG00000050344	Chromatin interaction
ENSG00000086300	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11971676	0.88[AFR][1000 genomes]
rs11972585	1.00[YRI][hapmap]
rs11979254	0.88[AFR][1000 genomes]
rs11981735	0.88[AFR][1000 genomes]
rs13230913	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs13241423	0.82[AFR][1000 genomes]
rs17153360	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6955003	0.88[AFR][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	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv887854	chr7:26238100-26248965	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	136 gene(s)	inside rSNPs	n/a
6	esv3376986	chr7:26242542-26248102	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	esv3440481	chr7:26242638-26245990	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
8	esv1821097	chr7:26243108-26303403	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:26242000-26245200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:26242000-26246200	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr7:26242200-26245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:26242400-26245400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:26242400-26245400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
8	chr7:26242400-26245600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
9	chr7:26242400-26246000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
10	chr7:26242400-26249400	Weak transcription	Stomach Mucosa	stomach
11	chr7:26242600-26245400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:26242600-26245400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:26242600-26245400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr7:26242600-26245600	Transcr. at gene 5' and 3'	K562	blood
15	chr7:26242600-26245800	Weak transcription	Placenta	Placenta
16	chr7:26242600-26245800	Transcr. at gene 5' and 3'	A549	lung
17	chr7:26242600-26246600	Weak transcription	Pancreas	Pancrea
18	chr7:26242600-26247200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:26242600-26247200	Weak transcription	Lung	lung
20	chr7:26242600-26249200	Weak transcription	Gastric	stomach
21	chr7:26242600-26249400	Weak transcription	Esophagus	oesophagus
22	chr7:26242800-26245400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
23	chr7:26242800-26245400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:26242800-26246400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:26242800-26254000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:26243000-26245400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:26243000-26245600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:26243200-26245400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
29	chr7:26243200-26245400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:26243200-26245600	Weak transcription	Colonic Mucosa	Colon
31	chr7:26243400-26245200	Enhancers	Colon Smooth Muscle	Colon
32	chr7:26243400-26245600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
33	chr7:26243400-26245600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:26243600-26246400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:26243600-26246600	Weak transcription	Right Ventricle	heart
36	chr7:26243600-26249400	Weak transcription	Aorta	Aorta
37	chr7:26243800-26246400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:26244000-26245400	Flanking Active TSS	Fetal Brain Female	brain
39	chr7:26244000-26245800	Enhancers	Fetal Heart	heart
40	chr7:26244200-26245200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:26244200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:26244200-26245200	Enhancers	Fetal Intestine Large	intestine
43	chr7:26244200-26245400	Genic enhancers	Primary B cells from cord blood	blood
44	chr7:26244200-26245400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:26244200-26245400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
46	chr7:26244200-26245600	Genic enhancers	Fetal Muscle Leg	muscle
47	chr7:26244200-26246000	Weak transcription	HSMMtube	muscle
48	chr7:26244200-26246200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:26244200-26246400	Weak transcription	Brain Angular Gyrus	brain
50	chr7:26244200-26246400	Weak transcription	Brain Inferior Temporal Lobe	brain

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