Variant report

Variant	rs6848243
Chromosome Location	chr4:74120910-74120911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:74120717-74120953	K562	blood:	n/a	n/a
2	GATA3	chr4:74120808-74121044	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:73929823..73938112-chr4:74120693..74129342,27	K562	blood:
2	chr4:73932413..73938405-chr4:74120693..74126649,20	K562	blood:
3	chr4:73932730..73938383-chr4:74120374..74126369,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250220	TF binding region
ENSG00000163626	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2306057	1.00[CEU][hapmap]
rs28709646	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3410570	chr4:74055180-74122498	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
3	chr4:74078200-74123000	Weak transcription	Lung	lung
4	chr4:74087800-74123400	Weak transcription	Gastric	stomach
5	chr4:74089000-74121400	Weak transcription	Hela-S3	cervix
6	chr4:74089200-74122000	Weak transcription	Aorta	Aorta
7	chr4:74089400-74121800	Weak transcription	NHLF	lung
8	chr4:74099800-74122400	Weak transcription	Stomach Mucosa	stomach
9	chr4:74101000-74121200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:74101000-74122000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:74101000-74122200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:74101000-74122600	Weak transcription	Fetal Stomach	stomach
13	chr4:74101000-74123000	Weak transcription	Placenta	Placenta
14	chr4:74101200-74122400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:74101400-74121200	Weak transcription	NHEK	skin
16	chr4:74101400-74121800	Weak transcription	Fetal Kidney	kidney
17	chr4:74102200-74122400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:74104600-74121200	Weak transcription	A549	lung
19	chr4:74106600-74123000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:74109000-74121200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:74111200-74121200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:74111200-74122400	Weak transcription	Ovary	ovary
23	chr4:74111400-74121800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:74111400-74121800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:74111400-74122000	Weak transcription	HSMMtube	muscle
26	chr4:74111400-74122400	Weak transcription	Colonic Mucosa	Colon
27	chr4:74111400-74122800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:74111400-74123000	Weak transcription	Pancreas	Pancrea
29	chr4:74111800-74121200	Weak transcription	Primary B cells from cord blood	blood
30	chr4:74111800-74121600	Weak transcription	Right Ventricle	heart
31	chr4:74112000-74121600	Weak transcription	Thymus	Thymus
32	chr4:74112400-74121000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:74112400-74121200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:74112400-74121200	Weak transcription	Psoas Muscle	Psoas
35	chr4:74112400-74121600	Weak transcription	Fetal Intestine Large	intestine
36	chr4:74112400-74121800	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:74112400-74122400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:74112400-74123200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:74115600-74122000	Weak transcription	Right Atrium	heart
40	chr4:74116000-74121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:74116400-74123400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:74116600-74121000	Genic enhancers	Dnd41	blood
43	chr4:74116800-74121800	Weak transcription	Fetal Intestine Small	intestine
44	chr4:74116800-74122600	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:74116800-74123000	Weak transcription	Left Ventricle	heart
46	chr4:74117000-74121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:74117000-74122800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:74117600-74122000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:74117600-74122000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:74118000-74121600	Weak transcription	Brain Inferior Temporal Lobe	brain

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