Variant report

Variant	rs6978246
Chromosome Location	chr7:128081490-128081491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128079058..128081650-chr7:128094503..128096174,2	MCF-7	breast:
2	chr7:128080630..128083451-chr7:128085283..128088252,3	MCF-7	breast:
3	chr7:128081121..128082834-chr7:128084423..128086408,3	K562	blood:

Variant related genes	Relation type
ENSG00000135245	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000273184	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10228542	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10239919	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10247945	0.82[EUR][1000 genomes]
rs11562031	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12111997	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12113427	0.82[EUR][1000 genomes]
rs1560215	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17152065	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28391244	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28429588	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4731449	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs57075087	0.86[EUR][1000 genomes]
rs6944392	1.00[CEU][hapmap]
rs714510	0.95[YRI][hapmap]
rs72624928	0.86[EUR][1000 genomes]
rs7779455	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7779818	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7779945	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7781310	0.81[EUR][1000 genomes]
rs7783540	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7784120	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7784564	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7806193	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv1801356	chr7:128073366-128084133	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128073800-128083800	Weak transcription	Esophagus	oesophagus
3	chr7:128075600-128083600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
6	chr7:128076000-128084000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:128076200-128081800	Weak transcription	HepG2	liver
8	chr7:128076400-128083400	Weak transcription	Placenta	Placenta
9	chr7:128076400-128083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:128076400-128084000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:128078800-128083800	Weak transcription	GM12878-XiMat	blood
13	chr7:128079400-128083600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:128079400-128085800	Weak transcription	K562	blood
15	chr7:128079600-128083600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:128079600-128083800	Weak transcription	Adipose Nuclei	Adipose
17	chr7:128079600-128084200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:128080800-128083600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:128081200-128082000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:128081400-128084000	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:128081400-128085200	Enhancers	Fetal Intestine Large	intestine
22	chr7:128081400-128085600	Enhancers	Fetal Intestine Small	intestine

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