Variant report

Variant	rs10008314
Chromosome Location	chr4:144118172-144118173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144104726..144107021-chr4:144117922..144120123,2	MCF-7	breast:
2	chr4:144106405..144108378-chr4:144116215..144118869,2	K562	blood:
3	chr4:144117812..144119628-chr4:144433284..144436085,2	MCF-7	breast:
4	chr4:144108579..144111987-chr4:144116540..144118899,3	K562	blood:

Variant related genes	Relation type
ENSG00000170185	Chromatin interaction
ENSG00000245112	Chromatin interaction
ENSG00000250326	Chromatin interaction
ENSG00000153147	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10003936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10007068	1.00[EUR][1000 genomes]
rs10017771	1.00[EUR][1000 genomes]
rs10021800	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10027917	1.00[EUR][1000 genomes]
rs10050163	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519676	1.00[EUR][1000 genomes]
rs11931764	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947101	1.00[ASN][1000 genomes]
rs17017089	1.00[EUR][1000 genomes]
rs28375333	1.00[EUR][1000 genomes]
rs28412476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28431915	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478042	1.00[EUR][1000 genomes]
rs28507672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28514400	1.00[EUR][1000 genomes]
rs28536468	1.00[EUR][1000 genomes]
rs28549779	1.00[EUR][1000 genomes]
rs28562579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28565503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28605749	1.00[EUR][1000 genomes]
rs28636716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655338	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28684892	1.00[EUR][1000 genomes]
rs28689042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28704746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28875577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28925889	1.00[ASN][1000 genomes]
rs28989231	1.00[ASN][1000 genomes]
rs300922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3196542	1.00[EUR][1000 genomes]
rs6822036	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825700	1.00[EUR][1000 genomes]
rs6845309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680827	1.00[ASN][1000 genomes]
rs9992969	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996641	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 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	chr4:144107400-144137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:144108200-144119200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:144108200-144128200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:144108600-144129200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:144109200-144123800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:144109200-144142800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:144109600-144123000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:144109800-144138200	Strong transcription	Fetal Thymus	thymus
9	chr4:144110000-144126200	Weak transcription	Fetal Heart	heart
10	chr4:144110000-144128200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:144110000-144128400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:144110200-144122800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:144110200-144136600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr4:144110200-144138000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:144110200-144145600	Weak transcription	Stomach Mucosa	stomach
16	chr4:144110400-144118200	Weak transcription	Right Atrium	heart
17	chr4:144110400-144120800	Strong transcription	NHDF-Ad	bronchial
18	chr4:144110400-144123600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:144110800-144119200	Weak transcription	Right Ventricle	heart
20	chr4:144110800-144122800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:144110800-144127600	Strong transcription	HSMM	muscle
22	chr4:144110800-144133000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr4:144110800-144137400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:144111000-144123000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:144111200-144123600	Strong transcription	Fetal Intestine Large	intestine
26	chr4:144111200-144128400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:144111400-144119600	Weak transcription	Fetal Brain Male	brain
28	chr4:144111400-144121000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr4:144111400-144122800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:144111400-144122800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:144111400-144123200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:144111400-144123400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:144111400-144123600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:144111400-144123600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:144111400-144128400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:144111400-144128600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr4:144111400-144131400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:144111400-144137400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr4:144111600-144122400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:144111600-144123600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr4:144111600-144128400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr4:144111800-144122600	Strong transcription	Fetal Muscle Leg	muscle
43	chr4:144111800-144122800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:144111800-144136200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:144112200-144120400	Strong transcription	HepG2	liver
46	chr4:144112200-144122800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:144112400-144122800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:144112400-144128200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr4:144112800-144120600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:144113000-144122800	Strong transcription	Fetal Brain Female	brain

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