Variant report

Variant	rs3757769
Chromosome Location	chr7:127541062-127541063
allele	C/T
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:7)
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	GTF2F1	chr7:127540891-127541111	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr7:127540910-127541156	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr7:127540823-127541122	H1-hESC	embryonic stem cell:	n/a	chr7:127541095-127541114

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:127539859..127542368-chr7:127543054..127544559,2	K562	blood:
2	chr7:127535349..127538608-chr7:127539437..127541786,4	MCF-7	breast:
3	chr7:127530901..127533766-chr7:127540275..127542321,2	K562	blood:
4	chr7:127539496..127544017-chr7:127546415..127549727,4	MCF-7	breast:
5	chr7:127540563..127543536-chr7:127545716..127548575,3	K562	blood:
6	chr7:127539523..127541289-chr7:127544674..127547671,2	K562	blood:
7	chr7:127540989..127542676-chr7:127542945..127545682,2	MCF-7	breast:

No data

Variant related genes	Relation type
SND1	TF binding region
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3823996	0.90[CHB][hapmap];1.00[CHD][hapmap]
rs56280073	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73455714	0.91[AFR][1000 genomes]
rs7802695	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:127526200-127544600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
5	chr7:127529200-127544600	Weak transcription	Thymus	Thymus
6	chr7:127529200-127545600	Weak transcription	Fetal Stomach	stomach
7	chr7:127529200-127546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:127529200-127548400	Weak transcription	Right Ventricle	heart
9	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:127529400-127542200	Weak transcription	Fetal Heart	heart
11	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:127531800-127542000	Weak transcription	Fetal Kidney	kidney
13	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
14	chr7:127532400-127547400	Weak transcription	A549	lung
15	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:127532600-127541200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:127532600-127546000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:127532800-127541600	Weak transcription	Dnd41	blood
19	chr7:127532800-127544800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:127532800-127545600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:127533800-127541400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:127534000-127542200	Weak transcription	Adipose Nuclei	Adipose
23	chr7:127534400-127544400	Weak transcription	Fetal Brain Male	brain
24	chr7:127535000-127542600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:127535000-127543200	Enhancers	Fetal Intestine Large	intestine
26	chr7:127535800-127542800	Enhancers	Fetal Intestine Small	intestine
27	chr7:127536800-127541200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:127537600-127541600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr7:127537800-127541600	Weak transcription	Primary B cells from cord blood	blood
30	chr7:127538000-127542600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:127538200-127542200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:127538200-127542800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr7:127538200-127544200	Weak transcription	NHEK	skin
34	chr7:127538400-127544600	Weak transcription	NHDF-Ad	bronchial
35	chr7:127538400-127545400	Weak transcription	HSMM	muscle
36	chr7:127538400-127546000	Weak transcription	NHLF	lung
37	chr7:127538600-127544000	Weak transcription	HMEC	breast
38	chr7:127538600-127544400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:127538800-127541200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:127538800-127544600	Weak transcription	HSMMtube	muscle
41	chr7:127538800-127546200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:127539000-127544000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:127539000-127544400	Weak transcription	HUVEC	blood vessel
44	chr7:127539000-127545600	Weak transcription	NH-A	brain
45	chr7:127539000-127556400	Weak transcription	Psoas Muscle	Psoas
46	chr7:127539200-127544600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:127539400-127541600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:127539400-127542600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr7:127539600-127541800	Enhancers	Small Intestine	intestine
50	chr7:127539600-127542600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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