Variant report

Variant	rs34610704
Chromosome Location	chr7:6435257-6435258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr7:6434845-6435348	GM12878	blood:	n/a	n/a
2	RUNX3	chr7:6434732-6435307	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:6435124-6436089	A549	lung:	n/a	n/a

No data

(count:9 , 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	chr7:6431756..6435735-chr7:6436671..6439752,6	MCF-7	breast:
6	chr7:6430584..6433273-chr7:6435099..6437752,2	K562	blood:
7	chr7:6425587..6427672-chr7:6434203..6435980,2	K562	blood:
8	chr7:6414178..6415764-chr7:6434413..6437205,2	K562	blood:
9	chr7:6421340..6424107-chr7:6434003..6435791,2	MCF-7	breast:

No data

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10234438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270289	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270779	0.85[ASN][1000 genomes]
rs12977	0.94[ASN][1000 genomes]
rs2347338	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421827	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34326300	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34353637	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418095	0.94[ASN][1000 genomes]
rs34444443	0.94[ASN][1000 genomes]
rs34521445	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34593300	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638150	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35109494	0.86[ASN][1000 genomes]
rs35130552	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149708	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35156887	0.94[ASN][1000 genomes]
rs35551995	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35981225	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68158432	0.90[ASN][1000 genomes]
rs6950333	0.94[ASN][1000 genomes]
rs6954996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967221	0.94[ASN][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	chr7:6417200-6435400	Weak transcription	Fetal Brain Male	brain
2	chr7:6426000-6456400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:6426400-6457400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:6426600-6436200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:6426800-6436200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:6426800-6436400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:6426800-6436600	Strong transcription	Dnd41	blood
9	chr7:6427000-6436400	Strong transcription	Fetal Stomach	stomach
10	chr7:6427600-6435600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:6429600-6437600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:6429800-6436200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:6430600-6435400	Genic enhancers	Fetal Intestine Large	intestine
14	chr7:6430600-6435800	Genic enhancers	Rectal Mucosa Donor 31	rectum
15	chr7:6430600-6436000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:6430600-6436000	Genic enhancers	Fetal Intestine Small	intestine
17	chr7:6430600-6436200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:6430600-6436400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr7:6431400-6435800	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:6431400-6436200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:6431800-6436000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:6431800-6436400	Genic enhancers	Rectal Mucosa Donor 29	rectum
23	chr7:6432200-6436200	Genic enhancers	Lung	lung
24	chr7:6432400-6435400	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr7:6432400-6435600	Genic enhancers	Esophagus	oesophagus
26	chr7:6432400-6436200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:6432400-6436400	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr7:6432400-6436400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:6432400-6436400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:6432600-6436600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:6432800-6436200	Genic enhancers	NHLF	lung
32	chr7:6432800-6438600	Enhancers	Left Ventricle	heart
33	chr7:6433000-6435600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:6433000-6436200	Enhancers	Gastric	stomach
35	chr7:6433200-6441200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:6433400-6437600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:6433600-6435400	Weak transcription	Placenta	Placenta
38	chr7:6433600-6435600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:6433600-6435600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr7:6433600-6435600	Weak transcription	Ovary	ovary
41	chr7:6433600-6436600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:6433600-6436600	Enhancers	Right Ventricle	heart
43	chr7:6433600-6437800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:6433600-6441200	Weak transcription	Fetal Kidney	kidney
45	chr7:6433800-6435600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:6433800-6436200	Strong transcription	HSMM	muscle
47	chr7:6433800-6436200	Strong transcription	Osteobl	bone
48	chr7:6433800-6436400	Enhancers	Stomach Mucosa	stomach
49	chr7:6433800-6440600	Weak transcription	HSMMtube	muscle
50	chr7:6434000-6435400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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