Variant report

Variant	rs73417990
Chromosome Location	chr6:37997638-37997639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37991053..37993262-chr6:37997611..38000343,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13437477	1.00[EUR][1000 genomes]
rs6901928	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73417962	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7752686	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9462372	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9470759	0.81[AFR][1000 genomes];1.00[EUR][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	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
3	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
4	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
5	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv34450	chr6:37963308-38007241	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2763549	chr6:37985025-38014006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37985000-38002400	Weak transcription	Primary B cells from cord blood	blood
2	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:37985200-38001400	Weak transcription	Small Intestine	intestine
4	chr6:37988000-38001400	Weak transcription	Stomach Mucosa	stomach
5	chr6:37990400-38000400	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:37990600-38005800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:37992800-37998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:37993000-38001800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:37994400-37999200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:37994400-38011400	Weak transcription	Aorta	Aorta
11	chr6:37995000-37998000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:37995200-38000800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr6:37995400-37997800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:37995600-37998200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:37995600-37998800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:37995600-38001200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:37995800-37998400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:37995800-37998600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:37995800-37998600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:37995800-37998600	Weak transcription	NHEK	skin
21	chr6:37995800-37999000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:37995800-38001200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:37995800-38003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:37995800-38005400	Weak transcription	Psoas Muscle	Psoas
25	chr6:37995800-38008000	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:37995800-38013000	Weak transcription	Fetal Thymus	thymus
27	chr6:37995800-38020600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:37996000-37998400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:37996000-37998600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:37996000-37998600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:37996000-37998800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:37996000-37998800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:37996000-38000200	Weak transcription	Brain Anterior Caudate	brain
34	chr6:37996000-38000200	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:37996000-38000400	Weak transcription	Brain Angular Gyrus	brain
36	chr6:37996000-38000800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:37996000-38001200	Weak transcription	Brain Substantia Nigra	brain
38	chr6:37996000-38001200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:37996000-38001200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:37996000-38001400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr6:37996000-38002000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:37996000-38002600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:37996000-38015400	Weak transcription	HSMMtube	muscle
44	chr6:37996200-38005400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:37996200-38008000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:37996200-38008600	Weak transcription	HUVEC	blood vessel
47	chr6:37996400-37998600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:37996400-38000400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:37996400-38001400	Weak transcription	Primary T cells from cord blood	blood
50	chr6:37996600-38001200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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