Variant report

Variant	rs11935873
Chromosome Location	chr4:2503587-2503588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2470899..2473494-chr4:2501384..2503654,2	K562	blood:

Variant related genes	Relation type
ENSG00000063978	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1203811	1.00[CHB][hapmap]
rs1203812	1.00[CHB][hapmap]
rs1887365	1.00[CHB][hapmap]
rs231696	1.00[CHB][hapmap]
rs231706	1.00[CHB][hapmap]
rs2792624	1.00[CHB][hapmap]
rs4479771	1.00[CHB][hapmap]
rs9994065	1.00[CHB][hapmap]

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	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
5	nsv518472	chr4:2348405-2516418	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr4:2475400-2518600	Strong transcription	Dnd41	blood
2	chr4:2477000-2518600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:2483600-2507600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:2487000-2522400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:2489000-2506200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:2489000-2520800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:2489600-2505800	Strong transcription	Fetal Stomach	stomach
8	chr4:2489600-2520400	Strong transcription	Fetal Intestine Small	intestine
9	chr4:2489800-2518600	Strong transcription	Fetal Thymus	thymus
10	chr4:2490000-2505800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:2490000-2506200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:2490000-2506200	Strong transcription	Thymus	Thymus
13	chr4:2490200-2518000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:2490400-2504000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:2490600-2505800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:2490800-2506000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:2490800-2506400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:2490800-2510200	Strong transcription	Primary T cells from cord blood	blood
19	chr4:2490800-2518200	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr4:2490800-2518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:2490800-2518400	Strong transcription	Fetal Intestine Large	intestine
22	chr4:2490800-2518600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:2491000-2517600	Strong transcription	Fetal Muscle Leg	muscle
24	chr4:2491000-2518200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:2491000-2518600	Strong transcription	Fetal Brain Female	brain
26	chr4:2491200-2504200	Strong transcription	Fetal Lung	lung
27	chr4:2491200-2506000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:2491200-2518200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:2491200-2518600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:2491200-2519800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:2491400-2504000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:2491600-2506200	Strong transcription	Placenta	Placenta
33	chr4:2491600-2518600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:2491800-2505800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:2491800-2509200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr4:2491800-2517800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr4:2492000-2503800	Strong transcription	NHLF	lung
38	chr4:2492000-2506000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:2492800-2506400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:2494600-2511600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:2494800-2507000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:2495000-2509400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:2495000-2518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:2495000-2518600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:2495800-2517800	Weak transcription	Psoas Muscle	Psoas
46	chr4:2496200-2504400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:2496200-2506000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr4:2496400-2503800	Strong transcription	Brain Germinal Matrix	brain
49	chr4:2496400-2506000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:2496800-2504200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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