Variant report

Variant	rs805273
Chromosome Location	chr6:31665452-31665453
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	POLR2A	chr6:31665255-31665707	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31664975..31665752-chr6:31737286..31737856,2	K562	blood:
2	chr6:31654246..31655748-chr6:31665202..31667838,2	MCF-7	breast:
3	chr6:31636831..31639047-chr6:31665389..31668213,2	MCF-7	breast:
4	chr6:31663587..31667118-chr6:31669359..31672270,6	MCF-7	breast:

Variant related genes	Relation type
ABHD16A	TF binding region
ENSG00000263020	Chromatin interaction
ENSG00000240053	Chromatin interaction
ENSG00000204427	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2242656	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2395047	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31649600-31669400	Weak transcription	HMEC	breast
2	chr6:31650800-31668800	Strong transcription	Thymus	Thymus
3	chr6:31651200-31668600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:31651600-31667800	Strong transcription	Brain Germinal Matrix	brain
5	chr6:31651600-31668600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:31651800-31669200	Weak transcription	Fetal Heart	heart
7	chr6:31652000-31665600	Strong transcription	Adipose Nuclei	Adipose
8	chr6:31652000-31668000	Strong transcription	Liver	Liver
9	chr6:31652000-31668600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:31652000-31668600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:31652000-31668600	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:31652000-31668600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr6:31652000-31668800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:31652200-31666000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:31652200-31666000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:31652200-31668600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:31652200-31668600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:31652200-31668600	Strong transcription	Fetal Stomach	stomach
19	chr6:31652200-31668800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr6:31652400-31668800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:31652600-31666000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:31653400-31667800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:31653600-31665600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:31653600-31665600	Strong transcription	Primary T cells from cord blood	blood
25	chr6:31653600-31667200	Strong transcription	Lung	lung
26	chr6:31653600-31668000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:31653600-31668600	Strong transcription	Fetal Muscle Leg	muscle
28	chr6:31653800-31665600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:31653800-31665800	Strong transcription	Brain Cingulate Gyrus	brain
30	chr6:31653800-31665800	Strong transcription	Brain Substantia Nigra	brain
31	chr6:31653800-31665800	Strong transcription	Colon Smooth Muscle	Colon
32	chr6:31653800-31665800	Strong transcription	Fetal Brain Female	brain
33	chr6:31653800-31666800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:31653800-31668000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:31654000-31665600	Strong transcription	Rectal Smooth Muscle	rectum
36	chr6:31654000-31665800	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr6:31654000-31666600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr6:31654000-31668000	Strong transcription	Left Ventricle	heart
39	chr6:31654000-31668200	Strong transcription	Dnd41	blood
40	chr6:31654000-31668400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:31654000-31669000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:31654200-31665600	Strong transcription	Fetal Lung	lung
43	chr6:31654200-31668800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:31654600-31668600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:31656600-31665800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:31657800-31668600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr6:31658000-31665600	Strong transcription	Spleen	Spleen
48	chr6:31658000-31668600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr6:31658000-31668800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr6:31658200-31668600	Strong transcription	Primary B cells from peripheral blood	blood

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