Variant report

Variant	rs10305748
Chromosome Location	chr1:150784620-150784621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150538740..150540797-chr1:150784272..150785983,2	MCF-7	breast:
2	chr1:150533359..150535631-chr1:150783020..150785029,2	MCF-7	breast:
3	chr1:150593699..150596030-chr1:150782553..150785002,2	MCF-7	breast:
4	chr1:150779291..150781180-chr1:150784227..150787241,3	K562	blood:
5	chr1:150784245..150785810-chr1:150789685..150791349,2	MCF-7	breast:
6	chr1:150539334..150542207-chr1:150782861..150785483,3	K562	blood:
7	chr1:150669609..150671897-chr1:150782631..150785278,2	K562	blood:
8	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:
9	chr1:150539334..150542207-chr1:150782861..150785483,4	K562	blood:
10	chr1:150541068..150543628-chr1:150783525..150786883,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143437	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000264584	Chromatin interaction
ENSG00000143387	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000203804	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17661357	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs35661734	1.00[AFR][1000 genomes]
rs72702577	1.00[AFR][1000 genomes]
rs72702591	1.00[AFR][1000 genomes]
rs72704612	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv2788	chr1:150755334-150800785	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150765400-150793600	Weak transcription	Fetal Heart	heart
2	chr1:150769400-150785200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:150771200-150785400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:150771600-150785200	Weak transcription	Pancreas	Pancrea
5	chr1:150772600-150785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:150779200-150790600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:150780600-150788600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:150780800-150785400	Weak transcription	Colonic Mucosa	Colon
9	chr1:150780800-150788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:150781000-150785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:150781000-150785200	Weak transcription	Fetal Brain Male	brain
12	chr1:150781000-150785800	Weak transcription	Right Atrium	heart
13	chr1:150781200-150785200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:150781400-150788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:150781600-150787000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr1:150782200-150785200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:150782200-150785400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:150782200-150787600	Strong transcription	Left Ventricle	heart
19	chr1:150782200-150791200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:150782200-150791400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:150782200-150795800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:150782200-150809600	Strong transcription	Fetal Muscle Leg	muscle
23	chr1:150782200-150809800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:150782200-150813000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:150782400-150785400	Strong transcription	Liver	Liver
26	chr1:150782400-150786800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:150782400-150789800	Strong transcription	Lung	lung
28	chr1:150782400-150812200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:150782600-150785600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:150782600-150787600	Strong transcription	Primary B cells from cord blood	blood
31	chr1:150782600-150796600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:150782600-150802800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:150782800-150788400	Weak transcription	HMEC	breast
34	chr1:150782800-150792800	Strong transcription	Placenta	Placenta
35	chr1:150782800-150795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:150783000-150785200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:150783000-150786800	Strong transcription	Primary T cells from cord blood	blood
38	chr1:150783000-150787000	Strong transcription	Brain Cingulate Gyrus	brain
39	chr1:150783000-150787200	Strong transcription	Brain Germinal Matrix	brain
40	chr1:150783000-150787600	Strong transcription	Brain Anterior Caudate	brain
41	chr1:150783000-150787800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr1:150783000-150790600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:150783000-150792600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:150783000-150795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:150783000-150797000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:150783200-150785400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:150783200-150786000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:150783200-150786600	Strong transcription	Small Intestine	intestine
49	chr1:150783200-150786800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr1:150783200-150786800	Strong transcription	HUVEC	blood vessel

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