Variant report

Variant	rs10269380
Chromosome Location	chr7:50354512-50354513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50244968..50246588-chr7:50352625..50355039,2	K562	blood:
2	chr7:50353400..50357230-chr7:50357507..50360612,6	K562	blood:
3	chr7:50353541..50355239-chr7:50366221..50368374,2	K562	blood:
4	chr7:50250013..50252117-chr7:50353490..50355323,2	K562	blood:

Variant related genes	Relation type
ENSG00000185811	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17732497	0.83[ASN][1000 genomes]
rs28625973	0.84[ASN][1000 genomes]
rs4917017	0.83[ASN][1000 genomes]
rs62447179	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6421315	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6583437	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6583438	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6583440	0.87[AMR][1000 genomes]
rs7777365	0.85[AMR][1000 genomes]
rs7781977	0.81[AMR][1000 genomes]
rs7782210	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7789913	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7791218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7795319	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7797255	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7802443	0.81[AMR][1000 genomes]
rs7804185	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7805434	0.81[AMR][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	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50349600-50357600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:50352200-50358600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr7:50352600-50354800	Enhancers	K562	blood
4	chr7:50352600-50355200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:50352600-50356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:50352800-50355600	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr7:50353000-50357200	Genic enhancers	Dnd41	blood
8	chr7:50353400-50358400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:50353600-50355400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:50353600-50358400	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:50354000-50356400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:50354000-50356400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:50354000-50356400	Flanking Active TSS	GM12878-XiMat	blood
14	chr7:50354000-50356600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:50354000-50356600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr7:50354000-50356600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr7:50354000-50356800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr7:50354000-50359000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr7:50354200-50354600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
20	chr7:50354200-50354600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:50354200-50354600	Transcr. at gene 5' and 3'	Thymus	Thymus
22	chr7:50354200-50355000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:50354200-50355200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:50354200-50355400	Genic enhancers	Primary B cells from cord blood	blood
25	chr7:50354200-50356200	Enhancers	Duodenum Mucosa	Duodenum
26	chr7:50354200-50356400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:50354200-50356400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:50354200-50356400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:50354200-50356400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:50354200-50356400	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:50354200-50356400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr7:50354200-50356400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
33	chr7:50354200-50356600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr7:50354200-50356600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:50354200-50356600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr7:50354200-50356800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:50354400-50354600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:50354400-50354600	Enhancers	Right Atrium	heart
39	chr7:50354400-50354600	Genic enhancers	Spleen	Spleen
40	chr7:50354400-50354800	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
41	chr7:50354400-50354800	Enhancers	Colonic Mucosa	Colon
42	chr7:50354400-50355000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:50354400-50355000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr7:50354400-50355000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:50354400-50355000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr7:50354400-50355400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:50354400-50355600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:50354400-50356200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr7:50354400-50356400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:50354400-50356400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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