Variant report

Variant	rs1203847
Chromosome Location	chr4:2517447-2517448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2512520..2514115-chr4:2515656..2517890,2	K562	blood:
2	chr4:2514570..2516169-chr4:2516817..2518400,2	MCF-7	breast:
3	chr4:2517242..2518890-chr4:2538886..2540551,2	K562	blood:
4	chr4:2511930..2514115-chr4:2515656..2518160,3	K562	blood:
5	chr4:2516535..2519349-chr4:2522155..2524717,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1070968	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1203848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1203857	0.89[AFR][1000 genomes]
rs231706	1.00[CEU][hapmap]
rs846253	0.86[ASW][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432548	chr4:1725009-2652494	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv1012665	chr4:2045458-2517751	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1009347	chr4:2202662-2517790	Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2475400-2518600	Strong transcription	Dnd41	blood
2	chr4:2477000-2518600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:2487000-2522400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:2489000-2520800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:2489600-2520400	Strong transcription	Fetal Intestine Small	intestine
6	chr4:2489800-2518600	Strong transcription	Fetal Thymus	thymus
7	chr4:2490200-2518000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:2490800-2518200	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr4:2490800-2518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:2490800-2518400	Strong transcription	Fetal Intestine Large	intestine
11	chr4:2490800-2518600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:2491000-2517600	Strong transcription	Fetal Muscle Leg	muscle
13	chr4:2491000-2518200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:2491000-2518600	Strong transcription	Fetal Brain Female	brain
15	chr4:2491200-2518200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:2491200-2518600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:2491200-2519800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:2491600-2518600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:2491800-2517800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr4:2495000-2518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:2495000-2518600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:2495800-2517800	Weak transcription	Psoas Muscle	Psoas
23	chr4:2497200-2520400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:2497400-2517800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr4:2498200-2517600	Weak transcription	Right Atrium	heart
26	chr4:2499400-2518200	Weak transcription	Small Intestine	intestine
27	chr4:2500600-2518200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr4:2500600-2518600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr4:2502400-2517600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:2503200-2519200	Weak transcription	Fetal Brain Male	brain
31	chr4:2504000-2518600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:2504000-2519000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:2506600-2520400	Strong transcription	Thymus	Thymus
34	chr4:2506800-2518000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:2507200-2518200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:2507200-2518400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:2507200-2518800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:2507200-2519200	Strong transcription	Fetal Stomach	stomach
39	chr4:2507600-2517600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr4:2507600-2517800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:2507600-2518000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr4:2507600-2518600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:2507600-2518600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:2507600-2518600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:2507600-2518800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:2507600-2519200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:2507600-2519400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:2507800-2518200	Strong transcription	NHLF	lung
49	chr4:2507800-2518800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:2508000-2518400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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