Variant report

Variant	rs11975705
Chromosome Location	chr7:6435932-6435933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6435498-6436131	HL-60	blood:	n/a	n/a
2	SPI1	chr7:6435821-6436378	HL-60	blood:	n/a	n/a
3	POLR2A	chr7:6435124-6436089	A549	lung:	n/a	n/a
4	POLR2A	chr7:6435506-6435960	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6412448..6415033-chr7:6435116..6438429,3	MCF-7	breast:
2	chr7:6420136..6422492-chr7:6433519..6436270,2	MCF-7	breast:
3	chr7:6414056..6415666-chr7:6433244..6435938,2	MCF-7	breast:
4	chr7:6140966..6142574-chr7:6434049..6436038,2	K562	blood:
5	chr7:6430584..6433273-chr7:6435099..6437752,2	K562	blood:
6	chr7:6425587..6427672-chr7:6434203..6435980,2	K562	blood:
7	chr7:6414178..6415764-chr7:6434413..6437205,2	K562	blood:

No data

Variant related genes	Relation type
RAC1	TF binding region
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11979574	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11980488	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34300338	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34455743	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34463379	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57671027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58697275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60393857	1.00[AMR][1000 genomes]
rs66516944	1.00[AMR][1000 genomes]
rs73341299	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342941	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342954	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr7:6426000-6456400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:6426400-6457400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:6426600-6436200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:6426800-6436200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:6426800-6436400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:6426800-6436600	Strong transcription	Dnd41	blood
8	chr7:6427000-6436400	Strong transcription	Fetal Stomach	stomach
9	chr7:6429600-6437600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:6429800-6436200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
11	chr7:6430600-6436000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:6430600-6436000	Genic enhancers	Fetal Intestine Small	intestine
13	chr7:6430600-6436200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:6430600-6436400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr7:6431400-6436200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:6431800-6436000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:6431800-6436400	Genic enhancers	Rectal Mucosa Donor 29	rectum
18	chr7:6432200-6436200	Genic enhancers	Lung	lung
19	chr7:6432400-6436200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:6432400-6436400	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr7:6432400-6436400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:6432400-6436400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:6432600-6436600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:6432800-6436200	Genic enhancers	NHLF	lung
25	chr7:6432800-6438600	Enhancers	Left Ventricle	heart
26	chr7:6433000-6436200	Enhancers	Gastric	stomach
27	chr7:6433200-6441200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:6433400-6437600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:6433600-6436600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:6433600-6436600	Enhancers	Right Ventricle	heart
31	chr7:6433600-6437800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:6433600-6441200	Weak transcription	Fetal Kidney	kidney
33	chr7:6433800-6436200	Strong transcription	HSMM	muscle
34	chr7:6433800-6436200	Strong transcription	Osteobl	bone
35	chr7:6433800-6436400	Enhancers	Stomach Mucosa	stomach
36	chr7:6433800-6440600	Weak transcription	HSMMtube	muscle
37	chr7:6434000-6436200	Genic enhancers	GM12878-XiMat	blood
38	chr7:6434000-6436400	Genic enhancers	K562	blood
39	chr7:6434000-6438000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:6434000-6438600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:6434000-6439600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:6434000-6439600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:6434200-6436000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:6434200-6436200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:6434200-6436400	Genic enhancers	Hela-S3	cervix
46	chr7:6434200-6437800	Weak transcription	Brain Germinal Matrix	brain
47	chr7:6434200-6438000	Weak transcription	NH-A	brain
48	chr7:6434200-6438600	Weak transcription	Fetal Lung	lung
49	chr7:6434200-6441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:6434200-6441200	Weak transcription	H9 Cell Line	embryonic stem cell

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