Variant report

Variant	rs7749716
Chromosome Location	chr6:37835352-37835353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37785357..37787655-chr6:37832956..37835943,2	K562	blood:
2	chr6:37827459..37830301-chr6:37832209..37835878,4	MCF-7	breast:
3	chr6:37835143..37837500-chr6:37850696..37852776,2	MCF-7	breast:
4	chr6:37834905..37837847-chr6:37840827..37844123,3	MCF-7	breast:
5	chr6:37831139..37833570-chr6:37835178..37837982,3	K562	blood:

Variant related genes	Relation type
ENSG00000225945	Chromatin interaction
ENSG00000156639	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7741926	0.94[AFR][1000 genomes]
rs7770212	1.00[YRI][hapmap];0.94[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016375	chr6:37816863-37865655	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv538204	chr6:37816863-37865655	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37800200-37836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:37808000-37839000	Weak transcription	Fetal Stomach	stomach
3	chr6:37812600-37836000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:37813600-37845200	Weak transcription	K562	blood
5	chr6:37814000-37835400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:37818400-37836000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:37820000-37835400	Weak transcription	Fetal Heart	heart
8	chr6:37820000-37850200	Weak transcription	Fetal Kidney	kidney
9	chr6:37820400-37836000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:37824000-37842000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:37824400-37836200	Weak transcription	Fetal Intestine Large	intestine
12	chr6:37826800-37836200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:37828600-37835400	Weak transcription	Brain Germinal Matrix	brain
14	chr6:37829000-37837800	Weak transcription	Dnd41	blood
15	chr6:37831000-37836000	Weak transcription	Hela-S3	cervix
16	chr6:37831000-37836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:37831000-37846000	Weak transcription	Esophagus	oesophagus
18	chr6:37831200-37837000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:37831200-37839600	Weak transcription	Fetal Lung	lung
20	chr6:37831400-37836000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:37831600-37836600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:37831800-37835400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:37831800-37836400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:37832000-37835400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr6:37832000-37836000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:37832400-37836200	Weak transcription	Fetal Brain Male	brain
27	chr6:37832600-37835400	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:37832600-37836400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:37832800-37836000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:37832800-37836200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:37833000-37835800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:37833000-37836200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:37833000-37836200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:37833000-37836400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:37833000-37837000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr6:37833000-37837600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr6:37833200-37836000	Enhancers	Osteobl	bone
38	chr6:37833200-37836200	Enhancers	Primary T cells from cord blood	blood
39	chr6:37833200-37836800	Enhancers	HSMM	muscle
40	chr6:37833400-37835400	Enhancers	Brain Substantia Nigra	brain
41	chr6:37833400-37835600	Enhancers	Gastric	stomach
42	chr6:37833400-37835600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:37833400-37835800	Enhancers	Brain Hippocampus Middle	brain
44	chr6:37833400-37836400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr6:37833400-37836400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:37833400-37836600	Enhancers	Primary B cells from peripheral blood	blood
47	chr6:37833400-37836600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:37833600-37835600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:37833600-37836200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:37833600-37836400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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