Variant report

Variant	rs35149843
Chromosome Location	chr7:8012491-8012492
allele	C/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	BATF	chr7:8012481-8012783	GM12878	blood:	n/a	n/a
2	MXI1	chr7:8006814-8014285	SK-N-SH	brain:	n/a	n/a
3	CHD1	chr7:8007292-8013431	GM12878	blood:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
4	BCLAF1	chr7:8012430-8013248	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:8006998-8013228	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:8012478-8012878	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:8012461-8012728	GM12892	blood:	n/a	n/a
8	MXI1	chr7:8012482-8012666	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7951350..7953467-chr7:8011566..8014289,2	MCF-7	breast:
2	chr7:8010918..8013023-chr7:8261319..8263548,2	K562	blood:
3	chr7:8011102..8012721-chr7:8079223..8080915,2	K562	blood:
4	chr7:7799170..7801738-chr7:8011527..8014249,3	MCF-7	breast:
5	chr7:8006834..8014864-chr7:8015250..8023851,23	K562	blood:
6	chr7:8012321..8014472-chr7:8092130..8094206,2	MCF-7	breast:
7	chr7:7959000..7960788-chr7:8011254..8013968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233108	TF binding region
ENSG00000233264	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12113109	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12702689	0.85[EUR][1000 genomes]
rs13222718	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13225545	0.91[EUR][1000 genomes]
rs34059590	0.91[EUR][1000 genomes]
rs34156160	0.87[EUR][1000 genomes]
rs34438930	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34746652	0.91[EUR][1000 genomes]
rs35009545	0.89[EUR][1000 genomes]
rs35143180	0.91[EUR][1000 genomes]
rs35146192	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35425218	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35509690	0.94[EUR][1000 genomes]
rs35567393	0.89[EUR][1000 genomes]
rs35641104	0.85[EUR][1000 genomes]
rs58769447	0.99[ASN][1000 genomes]
rs715377	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7793278	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8007200-8012600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:8007200-8013400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:8008200-8013400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:8009800-8014800	Active TSS	Brain Germinal Matrix	brain
5	chr7:8010000-8016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:8010000-8016200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:8010200-8013400	Flanking Active TSS	Dnd41	blood
8	chr7:8010400-8015600	Weak transcription	Small Intestine	intestine
9	chr7:8010400-8016200	Weak transcription	Left Ventricle	heart
10	chr7:8010600-8012800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:8010600-8012800	Active TSS	Duodenum Mucosa	Duodenum
12	chr7:8010600-8013000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:8010600-8014000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:8010800-8012800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:8010800-8012800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:8010800-8013000	Enhancers	Liver	Liver
17	chr7:8010800-8013200	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:8010800-8013400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:8010800-8023600	Weak transcription	Psoas Muscle	Psoas
20	chr7:8011000-8016800	Weak transcription	Osteobl	bone
21	chr7:8011200-8012800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr7:8011200-8013400	Active TSS	Stomach Smooth Muscle	stomach
23	chr7:8011200-8013800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:8011400-8012800	Active TSS	Fetal Brain Female	brain
25	chr7:8011400-8023600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:8011600-8012600	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr7:8011600-8012600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:8011600-8012600	Active TSS	GM12878-XiMat	blood
29	chr7:8011800-8012600	Active TSS	Brain Angular Gyrus	brain
30	chr7:8011800-8012800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:8011800-8013800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:8012000-8012800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:8012000-8012800	Enhancers	K562	blood
34	chr7:8012000-8013000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:8012000-8013000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:8012000-8013000	Active TSS	Brain Cingulate Gyrus	brain
37	chr7:8012000-8013000	Active TSS	Thymus	Thymus
38	chr7:8012000-8013200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:8012000-8013200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:8012000-8013200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr7:8012000-8013200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:8012000-8014400	Enhancers	Primary B cells from cord blood	blood
43	chr7:8012000-8014600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:8012000-8015800	Weak transcription	Spleen	Spleen
45	chr7:8012000-8016200	Weak transcription	Fetal Stomach	stomach
46	chr7:8012000-8017400	Weak transcription	Placenta	Placenta
47	chr7:8012000-8017400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:8012000-8017400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:8012000-8017600	Weak transcription	Aorta	Aorta
50	chr7:8012000-8018600	Weak transcription	Adipose Nuclei	Adipose

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